Canonical Allele Identifier: CA275666
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204090
ClinVar RCV Id: RCV000186296
dbSNP Id: rs180177199

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869330G>T , CM000664.2:g.240869330G>T GRCh38
NC_000002.11:g.241808747G>T , CM000664.1:g.241808747G>T GRCh37
NC_000002.10:g.241457420G>T NCBI36
NG_008005.1:g.5586G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.326G>T MANE Select ENSP00000302620.3:p.Gly109Val
ENST00000307503.3:c.326G>T ENSP00000302620.3:p.Gly109Val
ENST00000472436.1:n.346G>T
NM_000030.2:c.326G>T NP_000021.1:p.Gly109Val
XR_924060.1:n.405+903C>A
NM_000030.3:c.326G>T MANE Select NP_000021.1:p.Gly109Val