Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126551970C>T , CM000667.2:g.126551970C>T	GRCh38
NC_000005.9:g.125887662C>T , CM000667.1:g.125887662C>T	GRCh37
NC_000005.8:g.125915561C>T	NCBI36
NG_008600.2:g.48421G>A
NG_008600.3:g.48421G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1317+51G>A MANE Select	ENSP00000387123.3:n.1317+51G>A
ENST00000458249.6:c.*1226+51G>A	ENSP00000403929.1:n.*1226+51G>A
ENST00000497231.7:n.1744+51G>A
ENST00000503281.6:c.906+51G>A
ENST00000635851.1:c.1315+51G>A
ENST00000636062.1:n.1212+51G>A
ENST00000636225.1:c.*1261+51G>A	ENSP00000490797.1:n.*1261+51G>A
ENST00000636286.1:n.1035+51G>A
ENST00000636482.1:n.804+51G>A
ENST00000636743.1:c.1197+51G>A	ENSP00000489725.1:n.1197+51G>A
ENST00000636808.1:c.*1126+51G>A	ENSP00000490833.1:n.*1126+51G>A
ENST00000636872.1:c.1477+51G>A	ENSP00000490919.1:n.1477+51G>A
ENST00000636879.1:c.1362+51G>A	ENSP00000490811.1:n.1362+51G>A
ENST00000636886.1:c.1116+51G>A	ENSP00000490371.1:n.1116+51G>A
ENST00000637206.1:c.1137+51G>A	ENSP00000489895.1:n.1137+51G>A
ENST00000637272.1:c.1308+51G>A	ENSP00000489686.1:n.1308+51G>A
ENST00000637292.1:c.774-1677G>A
ENST00000637782.1:c.1317+51G>A	ENSP00000490024.1:n.1317+51G>A
ENST00000638008.1:c.*1161+51G>A	ENSP00000490400.1:n.*1161+51G>A
ENST00000638010.1:n.1263+51G>A
ENST00000409134.7:c.1317+51G>A	ENSP00000387123.3:n.1317+51G>A
ENST00000447989.6:c.1206+51G>A	ENSP00000414132.2:n.1206+51G>A
ENST00000476328.1:n.82+51G>A
ENST00000497231.6:n.1527+51G>A
ENST00000553117.5:c.1125+51G>A	ENSP00000448593.1:n.1125+51G>A
NM_001182.4:c.1317+51G>A	NP_001173.2:n.1317+51G>A
NM_001201377.1:c.1233+51G>A	NP_001188306.1:n.1233+51G>A
NM_001202404.1:c.1206+51G>A	NP_001189333.1:n.1206+51G>A
XM_011543417.1:c.912+51G>A	XP_011541719.1:n.912+51G>A
XM_011543417.2:c.912+51G>A	XP_011541719.1:n.912+51G>A
NM_001182.5:c.1317+51G>A MANE Select	NP_001173.2:n.1317+51G>A
NM_001201377.2:c.1233+51G>A	NP_001188306.1:n.1233+51G>A
NM_001202404.2:c.1125+51G>A	NP_001189333.2:n.1125+51G>A