Canonical Allele Identifier: CA2209270
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2664134
ClinVar RCV Id: RCV003445280
dbSNP Id: rs376364034

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875967A>G , CM000664.2:g.240875967A>G GRCh38
NC_000002.11:g.241815384A>G , CM000664.1:g.241815384A>G GRCh37
NC_000002.10:g.241464057A>G NCBI36
NG_008005.1:g.12223A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.809A>G MANE Select ENSP00000302620.3:p.Tyr270Cys
ENST00000307503.3:c.809A>G ENSP00000302620.3:p.Tyr270Cys
ENST00000476698.1:n.461A>G
NM_000030.2:c.809A>G NP_000021.1:p.Tyr270Cys
NM_000030.3:c.809A>G MANE Select NP_000021.1:p.Tyr270Cys