Canonical Allele Identifier: CA275566
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204031
ClinVar RCV Id: RCV000186235
dbSNP Id: rs180177192

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869300C>A , CM000664.2:g.240869300C>A GRCh38
NC_000002.11:g.241808717C>A , CM000664.1:g.241808717C>A GRCh37
NC_000002.10:g.241457390C>A NCBI36
NG_008005.1:g.5556C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.296C>A MANE Select ENSP00000302620.3:p.Ser99Tyr
ENST00000307503.3:c.296C>A ENSP00000302620.3:p.Ser99Tyr
ENST00000472436.1:n.316C>A
NM_000030.2:c.296C>A NP_000021.1:p.Ser99Tyr
XR_924060.1:n.405+933G>T
NM_000030.3:c.296C>A MANE Select NP_000021.1:p.Ser99Tyr