Canonical Allele Identifier: CA275791
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204151
dbSNP Id: rs796052067

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869363G>T , CM000664.2:g.240869363G>T GRCh38
NC_000002.11:g.241808780G>T , CM000664.1:g.241808780G>T GRCh37
NC_000002.10:g.241457453G>T NCBI36
NG_008005.1:g.5619G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+1G>T MANE Select ENSP00000302620.3:n.358+1G>T
ENST00000307503.3:c.358+1G>T ENSP00000302620.3:n.358+1G>T
ENST00000472436.1:n.378+1G>T
NM_000030.2:c.358+1G>T NP_000021.1:n.358+1G>T
XR_924060.1:n.405+870C>A
NM_000030.3:c.358+1G>T MANE Select NP_000021.1:n.358+1G>T