Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698653T>C , CM000664.2:g.227698653T>C	GRCh38
NC_000002.11:g.228563369T>C , CM000664.1:g.228563369T>C	GRCh37
NC_000002.10:g.228271613T>C	NCBI36
NG_016359.1:g.24377A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258403.8:c.979+83A>G	ENSP00000258403.3:n.979+83A>G
ENST00000425817.6:c.*1004+83A>G	ENSP00000397393.2:n.*1004+83A>G
ENST00000431622.6:c.*1004+83A>G	ENSP00000400627.1:n.*1004+83A>G
ENST00000642268.1:n.1169+83A>G
ENST00000644224.2:c.979+83A>G MANE Select	ENSP00000495385.1:n.979+83A>G
ENST00000645700.1:c.*90+83A>G	ENSP00000495372.1:n.*90+83A>G
ENST00000645923.1:c.664+83A>G	ENSP00000495010.1:n.664+83A>G
ENST00000646591.1:c.1015+83A>G	ENSP00000496701.1:n.1015+83A>G
ENST00000647113.1:c.151-2572A>G	ENSP00000494966.1:n.151-2572A>G
ENST00000676066.1:n.709+83A>G
ENST00000258403.7:c.979+83A>G	ENSP00000258403.3:n.979+83A>G
ENST00000409287.5:c.259+803A>G	ENSP00000386298.1:n.259+803A>G
ENST00000425817.5:c.979+83A>G	ENSP00000397393.1:n.979+83A>G
NM_025243.3:c.979+83A>G	NP_079519.1:n.979+83A>G
XM_005246874.2:c.967+83A>G	XP_005246931.1:n.967+83A>G
XM_006712779.2:c.994+83A>G	XP_006712842.1:n.994+83A>G
XM_011511931.1:c.1015+83A>G	XP_011510233.1:n.1015+83A>G
XM_011511932.1:c.979+83A>G	XP_011510234.1:n.979+83A>G
XM_011511933.1:c.979+83A>G	XP_011510235.1:n.979+83A>G
XM_005246874.3:c.967+83A>G	XP_005246931.1:n.967+83A>G
XM_011511931.2:c.1015+83A>G	XP_011510233.1:n.1015+83A>G
XM_017005030.1:c.1219+83A>G	XP_016860519.1:n.1219+83A>G
XM_017005031.1:c.1198+83A>G	XP_016860520.1:n.1198+83A>G
XM_017005032.1:c.1183+83A>G	XP_016860521.1:n.1183+83A>G
XM_017005033.1:c.1183+83A>G	XP_016860522.1:n.1183+83A>G
XM_017005034.2:c.1183+83A>G	XP_016860523.1:n.1183+83A>G
NM_025243.4:c.979+83A>G MANE Select	NP_079519.1:n.979+83A>G
NM_001371411.1:c.979+83A>G	NP_001358340.1:n.979+83A>G
NM_001371412.1:c.979+83A>G	NP_001358341.1:n.979+83A>G
NM_001371413.1:c.967+83A>G	NP_001358342.1:n.967+83A>G
NM_001371414.1:c.967+83A>G	NP_001358343.1:n.967+83A>G