Canonical Allele Identifier: CA275787
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204149
ClinVar RCV Id: RCV000186356
dbSNP Id: rs796052066

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878790C>A , CM000664.2:g.240878790C>A GRCh38
NC_000002.11:g.241818207C>A , CM000664.1:g.241818207C>A GRCh37
NC_000002.10:g.241466880C>A NCBI36
NG_008005.1:g.15046C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1148C>A MANE Select ENSP00000302620.3:p.Ala383Asp
ENST00000307503.3:c.1148C>A ENSP00000302620.3:p.Ala383Asp
ENST00000470255.1:n.926C>A
NM_000030.2:c.1148C>A NP_000021.1:p.Ala383Asp
NM_000030.3:c.1148C>A MANE Select NP_000021.1:p.Ala383Asp