Canonical Allele Identifier: CA275631
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204074
ClinVar RCV Id: RCV000186280
dbSNP Id: rs180177170

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868990G>A , CM000664.2:g.240868990G>A GRCh38
NC_000002.11:g.241808407G>A , CM000664.1:g.241808407G>A GRCh37
NC_000002.10:g.241457080G>A NCBI36
NG_008005.1:g.5246G>A

Transcript Alleles

HGVS Amino-acid change
NM_000030.2:c.125G>A VV NP_000021.1:p.Gly42Glu
XR_924060.1:n.405+1243C>T
NM_000030.3:c.125G>A VV MANE Preferred NP_000021.1:p.Gly42Glu
ENST00000307503.3:c.125G>A ENSP00000302620.3:p.Gly42Glu
ENST00000472436.1:n.145G>A