Canonical Allele Identifier: CA340443
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 5644
dbSNP Id: rs121908523

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868986G>A , CM000664.2:g.240868986G>A GRCh38
NC_000002.11:g.241808403G>A , CM000664.1:g.241808403G>A GRCh37
NC_000002.10:g.241457076G>A NCBI36
NG_008005.1:g.5242G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.121G>A MANE Select ENSP00000302620.3:p.Gly41Arg
ENST00000307503.3:c.121G>A ENSP00000302620.3:p.Gly41Arg
ENST00000472436.1:n.141G>A
NM_000030.2:c.121G>A NP_000021.1:p.Gly41Arg
XR_924060.1:n.405+1247C>T
NM_000030.3:c.121G>A MANE Select NP_000021.1:p.Gly41Arg