Canonical Allele Identifier: CA351318242
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059017434

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875189A>C , CM000664.2:g.240875189A>C GRCh38
NC_000002.11:g.241814606A>C , CM000664.1:g.241814606A>C GRCh37
NC_000002.10:g.241463279A>C NCBI36
NG_008005.1:g.11445A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.761A>C MANE Select ENSP00000302620.3:p.Asp254Ala
ENST00000307503.3:c.761A>C ENSP00000302620.3:p.Asp254Ala
ENST00000476698.1:n.413A>C
NM_000030.2:c.761A>C NP_000021.1:p.Asp254Ala
NM_000030.3:c.761A>C MANE Select NP_000021.1:p.Asp254Ala