Canonical Allele Identifier: CA275657
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204086
ClinVar RCV Id: RCV000186292
dbSNP Id: rs796052059

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869258C>A , CM000664.2:g.240869258C>A GRCh38
NC_000002.11:g.241808675C>A , CM000664.1:g.241808675C>A GRCh37
NC_000002.10:g.241457348C>A NCBI36
NG_008005.1:g.5514C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.254C>A MANE Select ENSP00000302620.3:p.Ala85Asp
ENST00000307503.3:c.254C>A ENSP00000302620.3:p.Ala85Asp
ENST00000472436.1:n.274C>A
NM_000030.2:c.254C>A NP_000021.1:p.Ala85Asp
XR_924060.1:n.405+975G>T
NM_000030.3:c.254C>A MANE Select NP_000021.1:p.Ala85Asp