Canonical Allele Identifier: CA275673
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204093
dbSNP Id: rs796052061

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869339C>A , CM000664.2:g.240869339C>A GRCh38
NC_000002.11:g.241808756C>A , CM000664.1:g.241808756C>A GRCh37
NC_000002.10:g.241457429C>A NCBI36
NG_008005.1:g.5595C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.335C>A MANE Select ENSP00000302620.3:p.Ala112Asp
ENST00000307503.3:c.335C>A ENSP00000302620.3:p.Ala112Asp
ENST00000472436.1:n.355C>A
NM_000030.2:c.335C>A NP_000021.1:p.Ala112Asp
XR_924060.1:n.405+894G>T
NM_000030.3:c.335C>A MANE Select NP_000021.1:p.Ala112Asp