Canonical Allele Identifier: CA275679
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204096
ClinVar RCV Id: RCV000186302
dbSNP Id: rs138025751

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869357G>A , CM000664.2:g.240869357G>A GRCh38
NC_000002.11:g.241808774G>A , CM000664.1:g.241808774G>A GRCh37
NC_000002.10:g.241457447G>A NCBI36
NG_008005.1:g.5613G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.353G>A MANE Select ENSP00000302620.3:p.Arg118His
ENST00000307503.3:c.353G>A ENSP00000302620.3:p.Arg118His
ENST00000472436.1:n.373G>A
NM_000030.2:c.353G>A NP_000021.1:p.Arg118His
XR_924060.1:n.405+876C>T
NM_000030.3:c.353G>A MANE Select NP_000021.1:p.Arg118His