Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522211G>C , CM000671.2:g.131522211G>C	GRCh38
NC_000009.11:g.134397598G>C , CM000671.1:g.134397598G>C	GRCh37
NC_000009.10:g.133387419G>C	NCBI36
NG_008896.1:g.24310G>C
NG_008896.2:g.24310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1828G>C	ENSP00000343034.7:p.Asp610His
ENST00000404875.7:n.2530G>C
ENST00000423007.6:c.2047G>C	ENSP00000404119.2:p.Asp683His
ENST00000677295.2:c.*2334G>C	ENSP00000504346.2:n.*2334G>C
ENST00000678264.2:c.*2173G>C	ENSP00000503157.2:n.*2173G>C
ENST00000682070.1:n.2300G>C
ENST00000682813.1:n.2394G>C
ENST00000683392.1:n.4582G>C
ENST00000683712.1:n.2395G>C
ENST00000683900.1:n.3890G>C
ENST00000684062.1:n.2656G>C
ENST00000684579.1:n.3836G>C
ENST00000341012.12:c.1828G>C	ENSP00000343034.7:p.Asp610His
ENST00000372220.5:c.859G>C	ENSP00000361294.5:p.Asp287His
ENST00000372228.9:c.2056G>C	ENSP00000361302.3:p.Asp686His
ENST00000402686.8:c.1990G>C MANE Select	ENSP00000385797.4:p.Asp664His
ENST00000676640.1:c.1990G>C	ENSP00000503281.1:p.Asp664His
ENST00000676803.1:c.1051G>C	ENSP00000503093.1:p.Asp351His
ENST00000676835.1:c.*1205G>C	ENSP00000502911.1:n.*1205G>C
ENST00000677029.1:c.1534G>C	ENSP00000502936.1:p.Asp512His
ENST00000677099.1:c.*1700G>C	ENSP00000504553.1:n.*1700G>C
ENST00000677216.1:c.1639G>C	ENSP00000503772.1:p.Asp547His
ENST00000677221.1:n.1015G>C
ENST00000677295.1:c.*1212G>C	ENSP00000504346.1:n.*1212G>C
ENST00000677444.1:c.1935G>C
ENST00000677586.1:n.1357G>C
ENST00000677626.1:c.1639G>C	ENSP00000503552.1:p.Asp547His
ENST00000677853.1:c.*998G>C	ENSP00000503488.1:n.*998G>C
ENST00000678264.1:c.*1367G>C	ENSP00000503157.1:n.*1367G>C
ENST00000678303.1:c.1900G>C	ENSP00000503696.1:p.Asp634His
ENST00000678366.1:c.*2239G>C	ENSP00000504353.1:n.*2239G>C
ENST00000678546.1:c.*1935G>C	ENSP00000503062.1:n.*1935G>C
ENST00000678548.1:c.*2129G>C	ENSP00000503934.1:n.*2129G>C
ENST00000678626.1:n.1826G>C
ENST00000678739.1:c.*2156G>C	ENSP00000503806.1:n.*2156G>C
ENST00000678833.1:c.*1742G>C	ENSP00000503893.1:n.*1742G>C
ENST00000679023.1:c.1828G>C	ENSP00000503718.1:p.Asp610His
ENST00000679076.1:c.1609G>C
ENST00000679111.1:c.*746G>C	ENSP00000504257.1:n.*746G>C
ENST00000679189.1:c.1639G>C	ENSP00000503356.1:p.Asp547His
ENST00000341012.11:c.1828G>C	ENSP00000343034.7:p.Asp610His
ENST00000372220.4:c.853G>C	ENSP00000361294.4:p.Asp285His
ENST00000372228.7:c.2056G>C	ENSP00000361302.3:p.Asp686His
ENST00000402686.7:c.1990G>C	ENSP00000385797.3:p.Asp664His
ENST00000404875.6:c.1639G>C	ENSP00000384531.2:p.Asp547His
ENST00000423007.5:c.1990G>C	ENSP00000404119.1:p.Asp664His
ENST00000485278.5:n.2540G>C
ENST00000494883.1:n.533G>C
NM_001077365.1:c.1990G>C	NP_001070833.1:p.Asp664His
NM_001077366.1:c.1828G>C	NP_001070834.1:p.Asp610His
NM_001136113.1:c.1990G>C	NP_001129585.1:p.Asp664His
NM_001136114.1:c.1639G>C	NP_001129586.1:p.Asp547His
NM_007171.3:c.2056G>C	NP_009102.3:p.Asp686His
XM_005272156.1:c.2056G>C	XP_005272213.1:p.Asp686His
XM_005272158.1:c.1894G>C	XP_005272215.1:p.Asp632His
XM_005272159.1:c.1705G>C	XP_005272216.1:p.Asp569His
XM_005272162.1:c.859G>C	XP_005272219.1:p.Asp287His
XM_006716932.1:c.1705G>C	XP_006716995.1:p.Asp569His
XM_011518140.1:c.1909G>C	XP_011516442.1:p.Asp637His
XM_011518141.1:c.1843G>C	XP_011516443.1:p.Asp615His
XM_011518142.1:c.1747G>C	XP_011516444.1:p.Asp583His
XM_011518143.1:c.1741G>C	XP_011516445.1:p.Asp581His
XM_011518145.1:c.1600G>C	XP_011516447.1:p.Asp534His
XM_011518147.1:c.928G>C	XP_011516449.1:p.Asp310His
XR_929703.1:n.2232G>C
NM_001353193.1:c.2056G>C	NP_001340122.1:p.Asp686His
NM_001353194.1:c.1828G>C	NP_001340123.1:p.Asp610His
NM_001353195.1:c.1639G>C	NP_001340124.1:p.Asp547His
NM_001353196.1:c.1900G>C	NP_001340125.1:p.Asp634His
NM_001353197.1:c.1894G>C	NP_001340126.1:p.Asp632His
NM_001353198.1:c.1894G>C	NP_001340127.1:p.Asp632His
NM_001353199.1:c.1705G>C	NP_001340128.1:p.Asp569His
NM_001353200.1:c.1534G>C	NP_001340129.1:p.Asp512His
NR_148391.1:n.2040G>C
NR_148392.1:n.2258G>C
NR_148393.1:n.2179G>C
NR_148394.1:n.1933G>C
NR_148395.1:n.2331G>C
NR_148396.1:n.1965G>C
NR_148397.1:n.2090G>C
NR_148398.1:n.2045G>C
NR_148399.1:n.2571G>C
NR_148400.1:n.2170G>C
XM_005272162.3:c.859G>C	XP_005272219.1:p.Asp287His
XM_006716932.2:c.1705G>C	XP_006716995.1:p.Asp569His
XM_011518140.2:c.1909G>C	XP_011516442.1:p.Asp637His
XM_011518141.2:c.1843G>C	XP_011516443.1:p.Asp615His
XM_011518142.2:c.1747G>C	XP_011516444.1:p.Asp583His
XM_011518143.2:c.1741G>C	XP_011516445.1:p.Asp581His
XM_011518145.2:c.1600G>C	XP_011516447.1:p.Asp534His
XM_017014205.2:c.859G>C	XP_016869694.1:p.Asp287His
XM_024447380.1:c.859G>C	XP_024303148.1:p.Asp287His
XM_024447381.1:c.1165G>C	XP_024303149.1:p.Asp389His
XM_024447382.1:c.859G>C	XP_024303150.1:p.Asp287His
XR_001746160.2:n.2160G>C
XR_001746162.2:n.2365G>C
XR_001746164.1:n.2082G>C
XR_001746166.2:n.2377G>C
NM_001077365.2:c.1990G>C MANE Select	NP_001070833.1:p.Asp664His
NM_001077366.2:c.1828G>C	NP_001070834.1:p.Asp610His
NM_001136113.2:c.1990G>C	NP_001129585.1:p.Asp664His
NM_001136114.2:c.1639G>C	NP_001129586.1:p.Asp547His
NM_001353193.2:c.2056G>C	NP_001340122.2:p.Asp686His
NM_001353194.2:c.1828G>C	NP_001340123.1:p.Asp610His
NM_001353195.2:c.1639G>C	NP_001340124.1:p.Asp547His
NM_001353196.2:c.1900G>C	NP_001340125.1:p.Asp634His
NM_001353197.2:c.1894G>C	NP_001340126.2:p.Asp632His
NM_001353198.2:c.1894G>C	NP_001340127.2:p.Asp632His
NM_001353199.2:c.1705G>C	NP_001340128.2:p.Asp569His
NM_001353200.2:c.1534G>C	NP_001340129.1:p.Asp512His
NM_001374689.1:c.1978G>C	NP_001361618.1:p.Asp660His
NM_001374690.1:c.1771G>C	NP_001361619.1:p.Asp591His
NM_001374691.1:c.1639G>C	NP_001361620.1:p.Asp547His
NM_001374692.1:c.1639G>C	NP_001361621.1:p.Asp547His
NM_001374693.1:c.1639G>C	NP_001361622.1:p.Asp547His
NM_001374695.1:c.1600G>C	NP_001361624.1:p.Asp534His
NM_007171.4:c.2056G>C	NP_009102.4:p.Asp686His
NR_148391.2:n.2024G>C
NR_148392.2:n.2242G>C
NR_148393.2:n.2163G>C
NR_148394.2:n.1917G>C
NR_148395.2:n.2315G>C
NR_148396.2:n.1949G>C
NR_148397.2:n.2074G>C
NR_148398.2:n.2029G>C
NR_148399.2:n.2555G>C
NR_148400.2:n.2154G>C

Linked Data

Genomic Alleles

Transcript Alleles