Canonical Allele Identifier: CA358785039

Gene: AGA

Linked Data

• gnomAD v4: 4-177442276-A-G
• MyVariant Identifiers: chr4:g.178363430A>G (hg19) ; chr4:g.177442276A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442276A>G , CM000666.2:g.177442276A>G	GRCh38
NC_000004.11:g.178363430A>G , CM000666.1:g.178363430A>G	GRCh37
NC_000004.10:g.178600424A>G	NCBI36
NG_011845.2:g.5228T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.100T>C MANE Select	ENSP00000264595.2:p.Trp34Arg
ENST00000264595.6:c.100T>C	ENSP00000264595.2:p.Trp34Arg
ENST00000506853.5:n.134T>C
ENST00000510955.5:n.134T>C
ENST00000511231.1:n.134T>C
NM_000027.3:c.100T>C	NP_000018.2:p.Trp34Arg
NM_001171988.1:c.100T>C	NP_001165459.1:p.Trp34Arg
NR_033655.1:n.228T>C
XM_006714123.2:c.100T>C	XP_006714186.1:p.Trp34Arg
XR_001741155.2:n.194T>C
NM_000027.4:c.100T>C MANE Select	NP_000018.2:p.Trp34Arg
NM_001171988.2:c.100T>C	NP_001165459.1:p.Trp34Arg
NR_033655.2:n.162T>C