Canonical Allele Identifier: CA275661
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204088
dbSNP Id: rs180177198

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869327G>A , CM000664.2:g.240869327G>A GRCh38
NC_000002.11:g.241808744G>A , CM000664.1:g.241808744G>A GRCh37
NC_000002.10:g.241457417G>A NCBI36
NG_008005.1:g.5583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.323G>A MANE Select ENSP00000302620.3:p.Trp108Ter
ENST00000307503.3:c.323G>A ENSP00000302620.3:p.Trp108Ter
ENST00000472436.1:n.343G>A
NM_000030.2:c.323G>A NP_000021.1:p.Trp108Ter
XR_924060.1:n.405+906C>T
NM_000030.3:c.323G>A MANE Select NP_000021.1:p.Trp108Ter