Canonical Allele Identifier: CA358782235

Gene: AGA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.760G>C MANE Select	ENSP00000264595.2:p.Ala254Pro
ENST00000264595.6:c.760G>C	ENSP00000264595.2:p.Ala254Pro
ENST00000502310.5:c.331G>C	ENSP00000423798.1:p.Ala111Pro
ENST00000506853.5:n.718G>C
NM_000027.3:c.760G>C	NP_000018.2:p.Ala254Pro
NM_001171988.1:c.730G>C	NP_001165459.1:p.Ala244Pro
NR_033655.1:n.812G>C
XM_006714123.2:c.*54G>C	XP_006714186.1:n.*54G>C
XR_001741155.2:n.832G>C
NM_000027.4:c.760G>C MANE Select	NP_000018.2:p.Ala254Pro
NM_001171988.2:c.730G>C	NP_001165459.1:p.Ala244Pro
NR_033655.2:n.746G>C