Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58890516G>A , CM000682.2:g.58890516G>A	GRCh38
NC_000020.10:g.57465571G>A , CM000682.1:g.57465571G>A	GRCh37
NC_000020.9:g.56898966G>A	NCBI36
NG_016194.1:g.55777G>A
NG_016194.2:g.55777G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000349036.9:c.2069-5096G>A	ENSP00000265621.6:n.2069-5096G>A
ENST00000419558.7:c.*43-5096G>A	ENSP00000416234.2:n.*43-5096G>A
ENST00000423897.7:c.2069-5096G>A	ENSP00000412356.2:n.2069-5096G>A
ENST00000453292.7:c.781-5096G>A	ENSP00000392000.2:n.781-5096G>A
ENST00000462499.6:c.-38-5096G>A	ENSP00000499758.2:n.-38-5096G>A
ENST00000464624.7:c.2160-5096G>A	ENSP00000499607.2:n.2160-5096G>A
ENST00000464788.6:c.-39+1303G>A	ENSP00000499239.2:n.-39+1303G>A
ENST00000467227.6:c.-38-5096G>A	ENSP00000499681.2:n.-38-5096G>A
ENST00000467321.6:c.-39+1470G>A	ENSP00000499523.2:n.-39+1470G>A
ENST00000469431.6:c.-39+1110G>A	ENSP00000499654.2:n.-39+1110G>A
ENST00000470512.6:c.-39+1163G>A	ENSP00000499552.2:n.-39+1163G>A
ENST00000472183.6:c.-38-5096G>A	ENSP00000499673.2:n.-38-5096G>A
ENST00000478585.6:c.-39+1163G>A	ENSP00000499762.2:n.-39+1163G>A
ENST00000480232.6:c.-39+967G>A	ENSP00000499545.2:n.-39+967G>A
ENST00000481039.6:c.-39+1608G>A	ENSP00000499767.2:n.-39+1608G>A
ENST00000482112.6:c.-38-5096G>A	ENSP00000499794.2:n.-38-5096G>A
ENST00000485673.6:c.-39+967G>A	ENSP00000499334.2:n.-39+967G>A
ENST00000488546.6:c.-39+1698G>A	ENSP00000499332.2:n.-39+1698G>A
ENST00000604005.6:c.-39+1184G>A	ENSP00000474219.2:n.-39+1184G>A
ENST00000663479.2:c.-38-5096G>A	ENSP00000499353.2:n.-38-5096G>A
ENST00000667293.2:c.-39+1612G>A	ENSP00000499293.2:n.-39+1612G>A
ENST00000676826.2:c.2069-5096G>A	ENSP00000504675.2:n.2069-5096G>A
ENST00000683015.1:c.636G>A	ENSP00000506815.1:p.Ser212=
ENST00000306090.12:c.44-5096G>A	ENSP00000304472.12:n.44-5096G>A
ENST00000349036.8:c.2069-5096G>A	ENSP00000265621.5:n.2069-5096G>A
ENST00000371100.9:c.2069-5096G>A MANE Plus Clinical	ENSP00000360141.3:n.2069-5096G>A
ENST00000419558.6:c.*43-5096G>A	ENSP00000416234.2:n.*43-5096G>A
ENST00000423897.6:c.2069-5096G>A	ENSP00000412356.2:n.2069-5096G>A
ENST00000453292.6:c.*43-5096G>A	ENSP00000392000.2:n.*43-5096G>A
ENST00000461152.6:c.636G>A	ENSP00000499274.1:p.Ser212=
ENST00000481768.6:c.2227-5096G>A	ENSP00000499644.2:n.2227-5096G>A
ENST00000490374.6:n.223-5096G>A
ENST00000657090.1:c.-38-5096G>A	ENSP00000499380.1:n.-38-5096G>A
ENST00000663479.1:c.-38-5096G>A	ENSP00000499353.1:n.-38-5096G>A
ENST00000667293.1:c.11-5096G>A	ENSP00000499293.1:n.11-5096G>A
ENST00000676826.1:c.2069-5096G>A	ENSP00000504675.1:n.2069-5096G>A
ENST00000313949.11:c.*43-5096G>A	ENSP00000323571.7:n.*43-5096G>A
ENST00000349036.7:c.188-5096G>A	ENSP00000265621.4:n.188-5096G>A
ENST00000371075.7:c.*43-5096G>A MANE Plus Clinical	ENSP00000360115.3:n.*43-5096G>A
ENST00000371098.6:c.*43-5096G>A	ENSP00000360139.2:n.*43-5096G>A
ENST00000371100.8:c.2069-5096G>A	ENSP00000360141.3:n.2069-5096G>A
ENST00000371102.8:c.2069-5096G>A	ENSP00000360143.4:n.2069-5096G>A
ENST00000419558.5:c.384-5096G>A
ENST00000423897.5:c.157-5096G>A
ENST00000450130.5:c.228-5096G>A
ENST00000453292.5:c.544-5096G>A	ENSP00000392000.1:n.544-5096G>A
ENST00000462499.5:n.259-5096G>A
ENST00000464624.6:n.2072-1066G>A
ENST00000464788.5:n.67+1303G>A
ENST00000464960.5:n.406+1698G>A
ENST00000467227.5:n.123-5096G>A
ENST00000467321.5:n.154+1470G>A
ENST00000468895.5:n.50+1608G>A
ENST00000469431.5:n.256+1110G>A
ENST00000470512.5:n.210+1163G>A
ENST00000472183.5:n.392-5096G>A
ENST00000477931.5:n.254+1163G>A
ENST00000478585.5:n.194+1163G>A
ENST00000480232.5:n.155+967G>A
ENST00000480975.5:n.183+1163G>A
ENST00000481039.5:n.56+1612G>A
ENST00000481768.5:n.1324-5096G>A
ENST00000482112.5:n.259-5096G>A
ENST00000484504.5:n.127+1163G>A
ENST00000485673.5:n.426+967G>A
ENST00000488546.5:n.40+1698G>A
ENST00000490374.5:n.255-5096G>A
ENST00000491348.5:n.534-5096G>A
ENST00000493744.5:n.233-5096G>A
ENST00000604005.5:c.-39+1184G>A	ENSP00000474219.1:n.-39+1184G>A
NM_001077490.1:c.*1-5096G>A	NP_001070958.1:n.*1-5096G>A
NM_001077490.2:c.*1-5096G>A	NP_001070958.1:n.*1-5096G>A
NM_001309840.1:c.-39+1163G>A	NP_001296769.1:n.-39+1163G>A
NM_001309861.1:c.-38-5096G>A	NP_001296790.1:n.-38-5096G>A
NM_001309883.1:c.*159-5096G>A	NP_001296812.1:n.*159-5096G>A
NM_016592.2:c.*43-5096G>A	NP_057676.1:n.*43-5096G>A
NM_016592.3:c.*43-5096G>A	NP_057676.1:n.*43-5096G>A
NM_080425.2:c.2069-5096G>A	NP_536350.2:n.2069-5096G>A
NM_080425.3:c.2069-5096G>A	NP_536350.2:n.2069-5096G>A
NR_003259.1:c.-4294967067+1163G>A
NR_132273.1:n.406+1698G>A
XM_017027812.2:c.2069-5096G>A	XP_016883301.1:n.2069-5096G>A
XM_017027813.2:c.2069-5096G>A	XP_016883302.1:n.2069-5096G>A
XM_017027814.2:c.2069-5096G>A	XP_016883303.1:n.2069-5096G>A
XM_017027815.1:c.44-5096G>A	XP_016883304.1:n.44-5096G>A
XM_017027817.1:c.-39+1163G>A	XP_016883306.1:n.-39+1163G>A
XM_017027819.1:c.-39+1184G>A	XP_016883308.1:n.-39+1184G>A
XM_017027821.1:c.*43-5096G>A	XP_016883310.1:n.*43-5096G>A
XM_017027822.1:c.*43-5096G>A	XP_016883311.1:n.*43-5096G>A
XM_024451872.1:c.44-5096G>A	XP_024307640.1:n.44-5096G>A
XM_024451875.1:c.-39+1184G>A	XP_024307643.1:n.-39+1184G>A
NM_001309840.2:c.-39+1163G>A	NP_001296769.1:n.-39+1163G>A
NM_001309861.2:c.-38-5096G>A	NP_001296790.1:n.-38-5096G>A
NM_016592.4:c.*43-5096G>A	NP_057676.1:n.*43-5096G>A
NM_001077490.3:c.*1-5096G>A	NP_001070958.1:n.*1-5096G>A
NM_016592.5:c.*43-5096G>A MANE Plus Clinical	NP_057676.1:n.*43-5096G>A
NM_080425.4:c.2069-5096G>A MANE Plus Clinical	NP_536350.2:n.2069-5096G>A

Linked Data

Genomic Alleles

Transcript Alleles