Canonical Allele Identifier: CA358785129

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363479G>T (hg19) ; chr4:g.177442325G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442325G>T , CM000666.2:g.177442325G>T	GRCh38
NC_000004.11:g.178363479G>T , CM000666.1:g.178363479G>T	GRCh37
NC_000004.10:g.178600473G>T	NCBI36
NG_011845.2:g.5179C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.51C>A MANE Select	ENSP00000264595.2:p.Cys17Ter
ENST00000264595.6:c.51C>A	ENSP00000264595.2:p.Cys17Ter
ENST00000506853.5:n.85C>A
ENST00000510955.5:n.85C>A
ENST00000511231.1:n.85C>A
NM_000027.3:c.51C>A	NP_000018.2:p.Cys17Ter
NM_001171988.1:c.51C>A	NP_001165459.1:p.Cys17Ter
NR_033655.1:n.179C>A
XM_006714123.2:c.51C>A	XP_006714186.1:p.Cys17Ter
XR_001741155.2:n.145C>A
NM_000027.4:c.51C>A MANE Select	NP_000018.2:p.Cys17Ter
NM_001171988.2:c.51C>A	NP_001165459.1:p.Cys17Ter
NR_033655.2:n.113C>A