Canonical Allele Identifier: CA442332644

Gene: AGA

Linked Data

• gnomAD v4: 4-177438771-G-T
• MyVariant Identifiers: chr4:g.178359925G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438771G>T , CM000666.2:g.177438771G>T	GRCh38
NC_000004.11:g.178359925G>T , CM000666.1:g.178359925G>T	GRCh37
NC_000004.10:g.178596919G>T	NCBI36
NG_011845.2:g.8733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.481C>A MANE Select	ENSP00000264595.2:p.Arg161=
ENST00000264595.6:c.481C>A	ENSP00000264595.2:p.Arg161=
ENST00000502310.5:c.136C>A	ENSP00000423798.1:p.Arg46=
ENST00000506853.5:n.515C>A
ENST00000510635.1:c.177C>A
ENST00000510955.5:n.402C>A
NM_000027.3:c.481C>A	NP_000018.2:p.Arg161=
NM_001171988.1:c.481C>A	NP_001165459.1:p.Arg161=
NR_033655.1:n.609C>A
XM_006714123.2:c.481C>A	XP_006714186.1:p.Arg161=
XR_001741155.2:n.575C>A
NM_000027.4:c.481C>A MANE Select	NP_000018.2:p.Arg161=
NM_001171988.2:c.481C>A	NP_001165459.1:p.Arg161=
NR_033655.2:n.543C>A