Canonical Allele Identifier: CA442332701

Gene: AGA

Linked Data

• dbSNP Id: rs1407741704
• gnomAD v2: 4-178360010-G-A
• MyVariant Identifiers: chr4:g.178360010G>A (hg19) ; chr4:g.177438856G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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