Canonical Allele Identifier: CA68173752
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1965693
ClinVar RCV Id: RCV002711292
dbSNP Id: rs1030478832

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869193C>T , CM000664.2:g.240869193C>T GRCh38
NC_000002.11:g.241808610C>T , CM000664.1:g.241808610C>T GRCh37
NC_000002.10:g.241457283C>T NCBI36
NG_008005.1:g.5449C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.189C>T MANE Select ENSP00000302620.3:p.Gly63=
ENST00000307503.3:c.189C>T ENSP00000302620.3:p.Gly63=
ENST00000472436.1:n.209C>T
NM_000030.2:c.189C>T NP_000021.1:p.Gly63=
XR_924060.1:n.405+1040G>A
NM_000030.3:c.189C>T MANE Select NP_000021.1:p.Gly63=