Canonical Allele Identifier: CA358782653

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358591T>A (hg19) ; chr4:g.177437437T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437437T>A , CM000666.2:g.177437437T>A	GRCh38
NC_000004.11:g.178358591T>A , CM000666.1:g.178358591T>A	GRCh37
NC_000004.10:g.178595585T>A	NCBI36
NG_011845.2:g.10067A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.590A>T MANE Select	ENSP00000264595.2:p.Glu197Val
ENST00000264595.6:c.590A>T	ENSP00000264595.2:p.Glu197Val
ENST00000502310.5:c.245A>T	ENSP00000423798.1:p.Glu82Val
ENST00000506853.5:n.624A>T
ENST00000510635.1:c.286A>T
ENST00000510955.5:n.511A>T
NM_000027.3:c.590A>T	NP_000018.2:p.Glu197Val
NM_001171988.1:c.590A>T	NP_001165459.1:p.Glu197Val
NR_033655.1:n.718A>T
XM_006714123.2:c.590A>T	XP_006714186.1:p.Glu197Val
XR_001741155.2:n.684A>T
NM_000027.4:c.590A>T MANE Select	NP_000018.2:p.Glu197Val
NM_001171988.2:c.590A>T	NP_001165459.1:p.Glu197Val
NR_033655.2:n.652A>T