Canonical Allele Identifier: CA340447
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 5649
ClinVar RCV Id: RCV000006003
dbSNP Id: rs121908528

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875166G>A , CM000664.2:g.240875166G>A GRCh38
NC_000002.11:g.241814583G>A , CM000664.1:g.241814583G>A GRCh37
NC_000002.10:g.241463256G>A NCBI36
NG_008005.1:g.11422G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.738G>A MANE Select ENSP00000302620.3:p.Trp246Ter
ENST00000307503.3:c.738G>A ENSP00000302620.3:p.Trp246Ter
ENST00000476698.1:n.390G>A
NM_000030.2:c.738G>A NP_000021.1:p.Trp246Ter
NM_000030.3:c.738G>A MANE Select NP_000021.1:p.Trp246Ter