Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617683G>T , CM000673.2:g.6617683G>T	GRCh38
NC_000011.9:g.6638914G>T , CM000673.1:g.6638914G>T	GRCh37
NC_000011.8:g.6595490G>T	NCBI36
NG_008653.1:g.6779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.209C>A	ENSP00000507321.1:p.Ala70Asp
ENST00000299427.12:c.323C>A MANE Select	ENSP00000299427.6:p.Ala108Asp
ENST00000428886.7:n.411C>A
ENST00000436873.7:c.127C>A
ENST00000524788.2:n.1335C>A
ENST00000524903.2:n.1451C>A
ENST00000528571.6:c.*63C>A	ENSP00000434647.1:n.*63C>A
ENST00000530040.2:n.352C>A
ENST00000533371.6:c.-407C>A	ENSP00000437066.1:n.-407C>A
ENST00000534644.6:n.324C>A
ENST00000642892.1:c.-354C>A	ENSP00000494165.1:n.-354C>A
ENST00000643439.1:c.*63C>A	ENSP00000495849.1:n.*63C>A
ENST00000643479.1:n.352C>A
ENST00000643516.1:c.210C>A
ENST00000644151.1:n.1615C>A
ENST00000644218.1:c.323C>A	ENSP00000493574.1:p.Ala108Asp
ENST00000644683.1:c.323C>A	ENSP00000494085.1:p.Ala108Asp
ENST00000644810.1:c.230-530C>A	ENSP00000495895.1:n.230-530C>A
ENST00000644831.1:n.352C>A
ENST00000644933.1:c.-407C>A	ENSP00000496133.1:n.-407C>A
ENST00000645020.1:n.1351C>A
ENST00000645285.1:c.-407C>A	ENSP00000495058.1:n.-407C>A
ENST00000645331.1:n.345C>A
ENST00000645620.1:c.-349C>A	ENSP00000493657.1:n.-349C>A
ENST00000646777.1:n.352C>A
ENST00000647016.1:n.656C>A
ENST00000647152.1:c.-407C>A	ENSP00000495893.1:n.-407C>A
ENST00000647209.1:c.*192C>A	ENSP00000495558.1:n.*192C>A
ENST00000647346.1:n.1343C>A
ENST00000299427.10:c.323C>A	ENSP00000299427.6:p.Ala108Asp
ENST00000428886.6:n.345C>A
ENST00000436873.6:c.323C>A	ENSP00000398136.2:p.Ala108Asp
ENST00000528571.5:c.*63C>A	ENSP00000434647.1:n.*63C>A
ENST00000530040.1:n.435C>A
ENST00000533371.5:c.-407C>A	ENSP00000437066.1:n.-407C>A
ENST00000534644.5:n.308C>A
ENST00000611494.4:c.323C>A	ENSP00000484546.1:p.Ala108Asp
NM_000391.3:c.323C>A	NP_000382.3:p.Ala108Asp
NM_000391.4:c.323C>A MANE Select	NP_000382.3:p.Ala108Asp

Linked Data

Genomic Alleles

Transcript Alleles