Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498509G>T , CM000672.2:g.121498509G>T	GRCh38
NC_000010.10:g.123258023G>T , CM000672.1:g.123258023G>T	GRCh37
NC_000010.9:g.123248013G>T	NCBI36
NG_012449.1:g.104950C>A
NG_012449.2:g.104950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1661C>A MANE Plus Clinical	ENSP00000410294.2:p.Ala554Asp
ENST00000351936.11:c.1652C>A	ENSP00000309878.10:p.Ala551Asp
ENST00000638709.2:c.482C>A	ENSP00000491912.2:p.Ala161Asp
ENST00000682296.1:n.1000C>A
ENST00000682550.1:c.1307C>A	ENSP00000507633.1:p.Ala436Asp
ENST00000682772.1:c.482C>A	ENSP00000506848.1:p.Ala161Asp
ENST00000682904.1:n.478C>A
ENST00000683211.1:c.1652C>A	ENSP00000508257.1:p.Ala551Asp
ENST00000683250.1:c.*360C>A	ENSP00000506847.1:n.*360C>A
ENST00000683418.1:n.3999C>A
ENST00000684153.1:c.1307C>A	ENSP00000506937.1:p.Ala436Asp
ENST00000684516.1:n.2671C>A
ENST00000358487.10:c.1658C>A MANE Select	ENSP00000351276.6:p.Ala553Asp
ENST00000336553.10:c.1385C>A	ENSP00000337665.6:p.Ala462Asp
ENST00000346997.6:c.1652C>A	ENSP00000263451.5:p.Ala551Asp
ENST00000351936.10:c.1658C>A	ENSP00000309878.9:p.Ala553Asp
ENST00000356226.8:c.1307C>A	ENSP00000348559.4:p.Ala436Asp
ENST00000357555.9:c.1391C>A	ENSP00000350166.5:p.Ala464Asp
ENST00000358487.9:c.1658C>A	ENSP00000351276.5:p.Ala553Asp
ENST00000360144.7:c.1394C>A	ENSP00000353262.3:p.Ala465Asp
ENST00000369056.5:c.1661C>A	ENSP00000358052.1:p.Ala554Asp
ENST00000369058.7:c.1661C>A	ENSP00000358054.3:p.Ala554Asp
ENST00000369059.5:c.1316C>A	ENSP00000358055.1:p.Ala439Asp
ENST00000369060.8:c.1310C>A	ENSP00000358056.4:p.Ala437Asp
ENST00000369061.8:c.1322C>A	ENSP00000358057.4:p.Ala441Asp
ENST00000429361.5:c.434C>A	ENSP00000404219.1:p.Ala145Asp
ENST00000457416.6:c.1661C>A	ENSP00000410294.2:p.Ala554Asp
ENST00000478859.5:c.974C>A	ENSP00000474011.1:p.Ala325Asp
ENST00000604236.5:c.*705C>A	ENSP00000474109.1:n.*705C>A
ENST00000613048.4:c.1391C>A	ENSP00000484154.1:p.Ala464Asp
NM_000141.4:c.1658C>A	NP_000132.3:p.Ala553Asp
NM_001144913.1:c.1661C>A	NP_001138385.1:p.Ala554Asp
NM_001144914.1:c.1322C>A	NP_001138386.1:p.Ala441Asp
NM_001144915.1:c.1391C>A	NP_001138387.1:p.Ala464Asp
NM_001144916.1:c.1313C>A	NP_001138388.1:p.Ala438Asp
NM_001144917.1:c.1310C>A	NP_001138389.1:p.Ala437Asp
NM_001144918.1:c.1307C>A	NP_001138390.1:p.Ala436Asp
NM_001144919.1:c.1394C>A	NP_001138391.1:p.Ala465Asp
NM_022970.3:c.1661C>A	NP_075259.4:p.Ala554Asp
NM_023029.2:c.1391C>A	NP_075418.1:p.Ala464Asp
NR_073009.1:n.2108C>A
XM_006717708.2:c.1712C>A	XP_006717771.1:p.Ala571Asp
XM_006717709.2:c.1709C>A	XP_006717772.1:p.Ala570Asp
XM_006717710.2:c.1718C>A	XP_006717773.1:p.Ala573Asp
XM_006717711.2:c.1451C>A	XP_006717774.1:p.Ala484Asp
XM_006717712.2:c.1373C>A	XP_006717775.1:p.Ala458Asp
XM_006717713.2:c.1715C>A	XP_006717776.1:p.Ala572Asp
XM_011539510.1:c.974C>A	XP_011537812.1:p.Ala325Asp
NM_001320654.1:c.974C>A	NP_001307583.1:p.Ala325Asp
NM_001320658.1:c.1652C>A	NP_001307587.1:p.Ala551Asp
XM_006717708.3:c.1712C>A	XP_006717771.1:p.Ala571Asp
XM_006717710.4:c.1718C>A	XP_006717773.1:p.Ala573Asp
XM_017015920.2:c.1712C>A	XP_016871409.1:p.Ala571Asp
XM_017015921.2:c.1709C>A	XP_016871410.1:p.Ala570Asp
XM_017015924.2:c.1370C>A	XP_016871413.1:p.Ala457Asp
XM_017015925.2:c.1364C>A	XP_016871414.1:p.Ala455Asp
XM_024447887.1:c.1448C>A	XP_024303655.1:p.Ala483Asp
XM_024447888.1:c.1445C>A	XP_024303656.1:p.Ala482Asp
XM_024447889.1:c.1442C>A	XP_024303657.1:p.Ala481Asp
XM_024447890.1:c.1451C>A	XP_024303658.1:p.Ala484Asp
XM_024447891.1:c.1373C>A	XP_024303659.1:p.Ala458Asp
XM_024447892.1:c.488C>A	XP_024303660.1:p.Ala163Asp
NM_000141.5:c.1658C>A MANE Select	NP_000132.3:p.Ala553Asp
NM_001144917.2:c.1310C>A	NP_001138389.1:p.Ala437Asp
NM_001144918.2:c.1307C>A	NP_001138390.1:p.Ala436Asp
NM_001144919.2:c.1394C>A	NP_001138391.1:p.Ala465Asp
NM_001320658.2:c.1652C>A	NP_001307587.1:p.Ala551Asp
NR_073009.2:n.2094C>A
NM_001144915.2:c.1391C>A	NP_001138387.1:p.Ala464Asp
NM_001144916.2:c.1313C>A	NP_001138388.1:p.Ala438Asp
NM_001320654.2:c.974C>A	NP_001307583.1:p.Ala325Asp

Linked Data

Genomic Alleles

Transcript Alleles