Canonical Allele Identifier: CA442332703

Gene: AGA

Linked Data

• gnomAD v4: 4-177438856-G-T
• MyVariant Identifiers: chr4:g.178360010G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438856G>T , CM000666.2:g.177438856G>T	GRCh38
NC_000004.11:g.178360010G>T , CM000666.1:g.178360010G>T	GRCh37
NC_000004.10:g.178597004G>T	NCBI36
NG_011845.2:g.8648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.396C>A MANE Select	ENSP00000264595.2:p.Ala132=
ENST00000264595.6:c.396C>A	ENSP00000264595.2:p.Ala132=
ENST00000502310.5:c.51C>A	ENSP00000423798.1:p.Ala17=
ENST00000506853.5:n.430C>A
ENST00000510635.1:c.92C>A
ENST00000510955.5:n.317C>A
NM_000027.3:c.396C>A	NP_000018.2:p.Ala132=
NM_001171988.1:c.396C>A	NP_001165459.1:p.Ala132=
NR_033655.1:n.524C>A
XM_006714123.2:c.396C>A	XP_006714186.1:p.Ala132=
XR_001741155.2:n.490C>A
NM_000027.4:c.396C>A MANE Select	NP_000018.2:p.Ala132=
NM_001171988.2:c.396C>A	NP_001165459.1:p.Ala132=
NR_033655.2:n.458C>A