Canonical Allele Identifier: CA275599
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204056
dbSNP Id: rs13408961

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877573G>A , CM000664.2:g.240877573G>A GRCh38
NC_000002.11:g.241816990G>A , CM000664.1:g.241816990G>A GRCh37
NC_000002.10:g.241465663G>A NCBI36
NG_008005.1:g.13829G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.883G>A MANE Select ENSP00000302620.3:p.Ala295Thr
ENST00000307503.3:c.883G>A ENSP00000302620.3:p.Ala295Thr
ENST00000470255.1:n.661G>A
NM_000030.2:c.883G>A NP_000021.1:p.Ala295Thr
NM_000030.3:c.883G>A MANE Select NP_000021.1:p.Ala295Thr