Canonical Allele Identifier: CA274217
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 188986
ClinVar RCV Id: RCV000169365
dbSNP Id: rs180177156

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878128G>A , CM000664.2:g.240878128G>A GRCh38
NC_000002.11:g.241817545G>A , CM000664.1:g.241817545G>A GRCh37
NC_000002.10:g.241466218G>A NCBI36
NG_008005.1:g.14384G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1049G>A MANE Select ENSP00000302620.3:p.Gly350Asp
ENST00000307503.3:c.1049G>A ENSP00000302620.3:p.Gly350Asp
ENST00000470255.1:n.827G>A
NM_000030.2:c.1049G>A NP_000021.1:p.Gly350Asp
NM_000030.3:c.1049G>A MANE Select NP_000021.1:p.Gly350Asp