Canonical Allele Identifier: CA358782238

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355582C>T (hg19) ; chr4:g.177434428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434428C>T , CM000666.2:g.177434428C>T	GRCh38
NC_000004.11:g.178355582C>T , CM000666.1:g.178355582C>T	GRCh37
NC_000004.10:g.178592576C>T	NCBI36
NG_011845.2:g.13076G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.760G>A MANE Select	ENSP00000264595.2:p.Ala254Thr
ENST00000264595.6:c.760G>A	ENSP00000264595.2:p.Ala254Thr
ENST00000502310.5:c.331G>A	ENSP00000423798.1:p.Ala111Thr
ENST00000506853.5:n.718G>A
NM_000027.3:c.760G>A	NP_000018.2:p.Ala254Thr
NM_001171988.1:c.730G>A	NP_001165459.1:p.Ala244Thr
NR_033655.1:n.812G>A
XM_006714123.2:c.*54G>A	XP_006714186.1:n.*54G>A
XR_001741155.2:n.832G>A
NM_000027.4:c.760G>A MANE Select	NP_000018.2:p.Ala254Thr
NM_001171988.2:c.730G>A	NP_001165459.1:p.Ala244Thr
NR_033655.2:n.746G>A