Canonical Allele Identifier: CA358782025

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355550C>G (hg19) ; chr4:g.177434396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434396C>G , CM000666.2:g.177434396C>G	GRCh38
NC_000004.11:g.178355550C>G , CM000666.1:g.178355550C>G	GRCh37
NC_000004.10:g.178592544C>G	NCBI36
NG_011845.2:g.13108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.792G>C MANE Select	ENSP00000264595.2:p.Met264Ile
ENST00000264595.6:c.792G>C	ENSP00000264595.2:p.Met264Ile
ENST00000502310.5:c.363G>C	ENSP00000423798.1:p.Met121Ile
ENST00000506853.5:n.750G>C
NM_000027.3:c.792G>C	NP_000018.2:p.Met264Ile
NM_001171988.1:c.762G>C	NP_001165459.1:p.Met254Ile
NR_033655.1:n.844G>C
XM_006714123.2:c.*86G>C	XP_006714186.1:n.*86G>C
XR_001741155.2:n.864G>C
NM_000027.4:c.792G>C MANE Select	NP_000018.2:p.Met264Ile
NM_001171988.2:c.762G>C	NP_001165459.1:p.Met254Ile
NR_033655.2:n.778G>C