Canonical Allele Identifier: CA351313417
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 983726
ClinVar RCV Id: RCV001263729
dbSNP Id: rs121908521

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869202C>A , CM000664.2:g.240869202C>A GRCh38
NC_000002.11:g.241808619C>A , CM000664.1:g.241808619C>A GRCh37
NC_000002.10:g.241457292C>A NCBI36
NG_008005.1:g.5458C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.198C>A MANE Select ENSP00000302620.3:p.Tyr66Ter
ENST00000307503.3:c.198C>A ENSP00000302620.3:p.Tyr66Ter
ENST00000472436.1:n.218C>A
NM_000030.2:c.198C>A NP_000021.1:p.Tyr66Ter
XR_924060.1:n.405+1031G>T
NM_000030.3:c.198C>A MANE Select NP_000021.1:p.Tyr66Ter