Canonical Allele Identifier: CA3146920

Gene: AGA

Linked Data

• dbSNP Id: rs773819054
• ExAC: 4:178360011 G / A
• gnomAD v2: 4-178360011-G-A
• MyVariant Identifiers: chr4:g.178360011G>A (hg19) ; chr4:g.177438857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438857G>A , CM000666.2:g.177438857G>A	GRCh38
NC_000004.11:g.178360011G>A , CM000666.1:g.178360011G>A	GRCh37
NC_000004.10:g.178597005G>A	NCBI36
NG_011845.2:g.8647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395C>T MANE Select	ENSP00000264595.2:p.Ala132Val
ENST00000264595.6:c.395C>T	ENSP00000264595.2:p.Ala132Val
ENST00000502310.5:c.50C>T	ENSP00000423798.1:p.Ala17Val
ENST00000506853.5:n.429C>T
ENST00000510635.1:c.91C>T
ENST00000510955.5:n.316C>T
NM_000027.3:c.395C>T	NP_000018.2:p.Ala132Val
NM_001171988.1:c.395C>T	NP_001165459.1:p.Ala132Val
NR_033655.1:n.523C>T
XM_006714123.2:c.395C>T	XP_006714186.1:p.Ala132Val
XR_001741155.2:n.489C>T
NM_000027.4:c.395C>T MANE Select	NP_000018.2:p.Ala132Val
NM_001171988.2:c.395C>T	NP_001165459.1:p.Ala132Val
NR_033655.2:n.457C>T