Canonical Allele Identifier: CA275785
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204148
ClinVar RCV Id: RCV000186355
dbSNP Id: rs180177163

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878744G>A , CM000664.2:g.240878744G>A GRCh38
NC_000002.11:g.241818161G>A , CM000664.1:g.241818161G>A GRCh37
NC_000002.10:g.241466834G>A NCBI36
NG_008005.1:g.15000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1102G>A MANE Select ENSP00000302620.3:p.Ala368Thr
ENST00000307503.3:c.1102G>A ENSP00000302620.3:p.Ala368Thr
ENST00000470255.1:n.880G>A
NM_000030.2:c.1102G>A NP_000021.1:p.Ala368Thr
NM_000030.3:c.1102G>A MANE Select NP_000021.1:p.Ala368Thr