Canonical Allele Identifier: CA275715
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204115
dbSNP Id: rs180177246

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873985C>A , CM000664.2:g.240873985C>A GRCh38
NC_000002.11:g.241813402C>A , CM000664.1:g.241813402C>A GRCh37
NC_000002.10:g.241462075C>A NCBI36
NG_008005.1:g.10241C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.603C>A MANE Select ENSP00000302620.3:p.Asp201Glu
ENST00000307503.3:c.603C>A ENSP00000302620.3:p.Asp201Glu
ENST00000476698.1:n.332+936C>A
NM_000030.2:c.603C>A NP_000021.1:p.Asp201Glu
NM_000030.3:c.603C>A MANE Select NP_000021.1:p.Asp201Glu