Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909830T>A , CM000682.2:g.58909830T>A	GRCh38
NC_000020.10:g.57484885T>A , CM000682.1:g.57484885T>A	GRCh37
NC_000020.9:g.56918280T>A	NCBI36
NG_016194.1:g.75091T>A
NG_016194.2:g.75091T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2723+26T>A	ENSP00000265621.6:n.2723+26T>A
ENST00000419558.7:c.*697+26T>A	ENSP00000416234.2:n.*697+26T>A
ENST00000453292.7:c.1438+26T>A	ENSP00000392000.2:n.1438+26T>A
ENST00000462499.6:c.620+26T>A	ENSP00000499758.2:n.620+26T>A
ENST00000464624.7:c.*681+26T>A	ENSP00000499607.2:n.*681+26T>A
ENST00000464788.6:c.662+26T>A	ENSP00000499239.2:n.662+26T>A
ENST00000467227.6:c.620+26T>A	ENSP00000499681.2:n.620+26T>A
ENST00000467321.6:c.662+26T>A	ENSP00000499523.2:n.662+26T>A
ENST00000468895.6:c.839+26T>A	ENSP00000499551.2:n.839+26T>A
ENST00000469431.6:c.662+26T>A	ENSP00000499654.2:n.662+26T>A
ENST00000470512.6:c.665+26T>A	ENSP00000499552.2:n.665+26T>A
ENST00000472183.6:c.662+26T>A	ENSP00000499673.2:n.662+26T>A
ENST00000475610.2:n.1345+26T>A
ENST00000476935.6:c.617+26T>A	ENSP00000499409.2:n.617+26T>A
ENST00000478585.6:c.620+26T>A	ENSP00000499762.2:n.620+26T>A
ENST00000480232.6:c.665+26T>A	ENSP00000499545.2:n.665+26T>A
ENST00000481039.6:c.620+26T>A	ENSP00000499767.2:n.620+26T>A
ENST00000482112.6:c.617+26T>A	ENSP00000499794.2:n.617+26T>A
ENST00000485673.6:c.620+26T>A	ENSP00000499334.2:n.620+26T>A
ENST00000488546.6:c.620+26T>A	ENSP00000499332.2:n.620+26T>A
ENST00000488652.6:c.662+26T>A	ENSP00000499435.2:n.662+26T>A
ENST00000492907.6:c.620+26T>A	ENSP00000499443.2:n.620+26T>A
ENST00000603546.2:c.662+26T>A	ENSP00000474802.2:n.662+26T>A
ENST00000604005.6:c.662+26T>A	ENSP00000474219.2:n.662+26T>A
ENST00000663479.2:c.665+26T>A	ENSP00000499353.2:n.665+26T>A
ENST00000667293.2:c.662+26T>A	ENSP00000499293.2:n.662+26T>A
ENST00000676826.2:c.2771+26T>A	ENSP00000504675.2:n.2771+26T>A
ENST00000682092.1:n.5123+26T>A
ENST00000682134.1:n.2765+26T>A
ENST00000682411.1:n.2934+26T>A
ENST00000682590.1:n.5026+26T>A
ENST00000682680.1:n.5040+26T>A
ENST00000682803.1:c.512+26T>A	ENSP00000507069.1:n.512+26T>A
ENST00000682829.1:n.3167+26T>A
ENST00000682917.1:n.1367+26T>A
ENST00000682986.1:n.5282T>A
ENST00000683015.1:c.1609+26T>A	ENSP00000506815.1:n.1609+26T>A
ENST00000683632.1:n.5369+26T>A
ENST00000683932.1:n.6615+26T>A
ENST00000684284.1:n.3217+26T>A
ENST00000684466.1:n.1478+26T>A
ENST00000684644.1:n.5159+26T>A
ENST00000684761.1:n.1332+26T>A
ENST00000306090.12:c.743+26T>A	ENSP00000304472.12:n.743+26T>A
ENST00000354359.12:c.842+26T>A	ENSP00000346328.7:n.842+26T>A
ENST00000371085.8:c.839+26T>A MANE Select	ENSP00000360126.3:n.839+26T>A
ENST00000371100.9:c.2768+26T>A MANE Plus Clinical	ENSP00000360141.3:n.2768+26T>A
ENST00000656419.1:c.368+26T>A	ENSP00000499614.1:n.368+26T>A
ENST00000657090.1:c.662+26T>A	ENSP00000499380.1:n.662+26T>A
ENST00000667293.1:c.710+26T>A	ENSP00000499293.1:n.710+26T>A
ENST00000265620.11:c.794+26T>A	ENSP00000265620.7:n.794+26T>A
ENST00000306090.11:c.131+26T>A	ENSP00000304472.11:n.131+26T>A
ENST00000313949.11:c.*742+26T>A	ENSP00000323571.7:n.*742+26T>A
ENST00000354359.11:c.842+26T>A	ENSP00000346328.7:n.842+26T>A
ENST00000371075.7:c.*745+26T>A MANE Plus Clinical	ENSP00000360115.3:n.*745+26T>A
ENST00000371085.7:c.839+26T>A	ENSP00000360126.3:n.839+26T>A
ENST00000371095.7:c.797+26T>A	ENSP00000360136.3:n.797+26T>A
ENST00000371100.8:c.2768+26T>A	ENSP00000360141.3:n.2768+26T>A
ENST00000371102.8:c.2726+26T>A	ENSP00000360143.4:n.2726+26T>A
ENST00000464624.6:n.3055+26T>A
ENST00000476196.5:n.1132+26T>A
ENST00000477931.5:n.954+26T>A
ENST00000480232.5:n.858+26T>A
ENST00000480975.5:n.838+26T>A
ENST00000487862.5:n.1073+26T>A
ENST00000488546.5:n.698+26T>A
ENST00000488652.5:n.929+26T>A
ENST00000494081.5:n.394+26T>A
ENST00000496934.5:n.2128+26T>A
NM_000516.4:c.839+26T>A	NP_000507.1:n.839+26T>A
NM_000516.5:c.839+26T>A	NP_000507.1:n.839+26T>A
NM_001077488.2:c.842+26T>A	NP_001070956.1:n.842+26T>A
NM_001077488.3:c.842+26T>A	NP_001070956.1:n.842+26T>A
NM_001077489.2:c.794+26T>A	NP_001070957.1:n.794+26T>A
NM_001077489.3:c.794+26T>A	NP_001070957.1:n.794+26T>A
NM_001077490.1:c.*700+26T>A	NP_001070958.1:n.*700+26T>A
NM_001077490.2:c.*700+26T>A	NP_001070958.1:n.*700+26T>A
NM_001309840.1:c.662+26T>A	NP_001296769.1:n.662+26T>A
NM_001309861.1:c.662+26T>A	NP_001296790.1:n.662+26T>A
NM_016592.2:c.*745+26T>A	NP_057676.1:n.*745+26T>A
NM_016592.3:c.*745+26T>A	NP_057676.1:n.*745+26T>A
NM_080425.2:c.2768+26T>A	NP_536350.2:n.2768+26T>A
NM_080425.3:c.2768+26T>A	NP_536350.2:n.2768+26T>A
NM_080426.2:c.797+26T>A	NP_536351.1:n.797+26T>A
NM_080426.3:c.797+26T>A	NP_536351.1:n.797+26T>A
NR_003259.1:c.-4294966367+26T>A
XM_017027812.2:c.2771+26T>A	XP_016883301.1:n.2771+26T>A
XM_017027813.2:c.2726+26T>A	XP_016883302.1:n.2726+26T>A
XM_017027814.2:c.2723+26T>A	XP_016883303.1:n.2723+26T>A
XM_017027815.1:c.698+26T>A	XP_016883304.1:n.698+26T>A
XM_017027816.1:c.617+26T>A	XP_016883305.1:n.617+26T>A
XM_017027817.1:c.617+26T>A	XP_016883306.1:n.617+26T>A
XM_017027818.2:c.617+26T>A	XP_016883307.1:n.617+26T>A
XM_017027819.1:c.617+26T>A	XP_016883308.1:n.617+26T>A
XM_017027820.1:c.617+26T>A	XP_016883309.1:n.617+26T>A
XM_024451872.1:c.743+26T>A	XP_024307640.1:n.743+26T>A
XM_024451873.1:c.662+26T>A	XP_024307641.1:n.662+26T>A
XM_024451874.1:c.662+26T>A	XP_024307642.1:n.662+26T>A
XM_024451875.1:c.662+26T>A	XP_024307643.1:n.662+26T>A
XR_002958471.1:n.1546+26T>A
NM_000516.6:c.839+26T>A	NP_000507.1:n.839+26T>A
NM_001077488.4:c.842+26T>A	NP_001070956.1:n.842+26T>A
NM_001077489.4:c.794+26T>A	NP_001070957.1:n.794+26T>A
NM_001309840.2:c.662+26T>A	NP_001296769.1:n.662+26T>A
NM_001309861.2:c.662+26T>A	NP_001296790.1:n.662+26T>A
NM_016592.4:c.*745+26T>A	NP_057676.1:n.*745+26T>A
NM_080426.4:c.797+26T>A	NP_536351.1:n.797+26T>A
NM_000516.7:c.839+26T>A MANE Select	NP_000507.1:n.839+26T>A
NM_001077488.5:c.842+26T>A	NP_001070956.1:n.842+26T>A
NM_001077490.3:c.*700+26T>A	NP_001070958.1:n.*700+26T>A
NM_016592.5:c.*745+26T>A MANE Plus Clinical	NP_057676.1:n.*745+26T>A
NM_080425.4:c.2768+26T>A MANE Plus Clinical	NP_536350.2:n.2768+26T>A

Linked Data

Genomic Alleles

Transcript Alleles