Canonical Allele Identifier: CA1515644645
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439588C= , CM000666.2:g.177439588C= GRCh38
NC_000004.11:g.178360742C= , CM000666.1:g.178360742C= GRCh37
NC_000004.10:g.178597736C= NCBI36
NG_011845.2:g.7916G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.382G= MANE Select ENSP00000264595.2:p.Val128=
ENST00000264595.6:c.382G= ENSP00000264595.2:p.Val128=
ENST00000502310.5:c.37G= ENSP00000423798.1:p.Val13=
ENST00000506853.5:n.416G=
ENST00000510635.1:c.78G=
ENST00000510955.5:n.315+685G=
NM_000027.3:c.382G= NP_000018.2:p.Val128=
NM_001171988.1:c.382G= NP_001165459.1:p.Val128=
NR_033655.1:n.510G=
XM_006714123.2:c.382G= XP_006714186.1:p.Val128=
XR_001741155.2:n.476G=
NM_000027.4:c.382G= MANE Select NP_000018.2:p.Val128=
NM_001171988.2:c.382G= NP_001165459.1:p.Val128=
NR_033655.2:n.444G=