Canonical Allele Identifier: CA275659
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204087
dbSNP Id: rs180177189

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869287G>A , CM000664.2:g.240869287G>A GRCh38
NC_000002.11:g.241808704G>A , CM000664.1:g.241808704G>A GRCh37
NC_000002.10:g.241457377G>A NCBI36
NG_008005.1:g.5543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.283G>A MANE Select ENSP00000302620.3:p.Glu95Lys
ENST00000307503.3:c.283G>A ENSP00000302620.3:p.Glu95Lys
ENST00000472436.1:n.303G>A
NM_000030.2:c.283G>A NP_000021.1:p.Glu95Lys
XR_924060.1:n.405+946C>T
NM_000030.3:c.283G>A MANE Select NP_000021.1:p.Glu95Lys