Canonical Allele Identifier: CA275806
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204166
ClinVar RCV Id: RCV000186373
dbSNP Id: rs180177245

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873976A>G , CM000664.2:g.240873976A>G GRCh38
NC_000002.11:g.241813393A>G , CM000664.1:g.241813393A>G GRCh37
NC_000002.10:g.241462066A>G NCBI36
NG_008005.1:g.10232A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.596-2A>G MANE Select ENSP00000302620.3:n.596-2A>G
ENST00000307503.3:c.596-2A>G ENSP00000302620.3:n.596-2A>G
ENST00000476698.1:n.332+927A>G
NM_000030.2:c.596-2A>G NP_000021.1:n.596-2A>G
NM_000030.3:c.596-2A>G MANE Select NP_000021.1:n.596-2A>G