Canonical Allele Identifier: CA358783524

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360735T>A (hg19) ; chr4:g.177439581T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439581T>A , CM000666.2:g.177439581T>A	GRCh38
NC_000004.11:g.178360735T>A , CM000666.1:g.178360735T>A	GRCh37
NC_000004.10:g.178597729T>A	NCBI36
NG_011845.2:g.7923A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.389A>T MANE Select	ENSP00000264595.2:p.Glu130Val
ENST00000264595.6:c.389A>T	ENSP00000264595.2:p.Glu130Val
ENST00000502310.5:c.44A>T	ENSP00000423798.1:p.Glu15Val
ENST00000506853.5:n.423A>T
ENST00000510635.1:c.85A>T
ENST00000510955.5:n.315+692A>T
NM_000027.3:c.389A>T	NP_000018.2:p.Glu130Val
NM_001171988.1:c.389A>T	NP_001165459.1:p.Glu130Val
NR_033655.1:n.517A>T
XM_006714123.2:c.389A>T	XP_006714186.1:p.Glu130Val
XR_001741155.2:n.483A>T
NM_000027.4:c.389A>T MANE Select	NP_000018.2:p.Glu130Val
NM_001171988.2:c.389A>T	NP_001165459.1:p.Glu130Val
NR_033655.2:n.451A>T