Canonical Allele Identifier: CA351318219
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs762757818

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875179T>A , CM000664.2:g.240875179T>A GRCh38
NC_000002.11:g.241814596T>A , CM000664.1:g.241814596T>A GRCh37
NC_000002.10:g.241463269T>A NCBI36
NG_008005.1:g.11435T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.751T>A MANE Select ENSP00000302620.3:p.Trp251Arg
ENST00000307503.3:c.751T>A ENSP00000302620.3:p.Trp251Arg
ENST00000476698.1:n.403T>A
NM_000030.2:c.751T>A NP_000021.1:p.Trp251Arg
NM_000030.3:c.751T>A MANE Select NP_000021.1:p.Trp251Arg