Canonical Allele Identifier: CA432235008
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1532835
ClinVar RCV Id: RCV002102196
dbSNP Id: rs769473982

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868988G>A , CM000664.2:g.240868988G>A GRCh38
NC_000002.11:g.241808405G>A , CM000664.1:g.241808405G>A GRCh37
NC_000002.10:g.241457078G>A NCBI36
NG_008005.1:g.5244G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.123G>A MANE Select ENSP00000302620.3:p.Gly41=
ENST00000307503.3:c.123G>A ENSP00000302620.3:p.Gly41=
ENST00000472436.1:n.143G>A
NM_000030.2:c.123G>A NP_000021.1:p.Gly41=
XR_924060.1:n.405+1245C>T
NM_000030.3:c.123G>A MANE Select NP_000021.1:p.Gly41=