Canonical Allele Identifier: CA275730
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204122
ClinVar RCV Id: RCV000186328
dbSNP Id: rs180177254

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874043T>C , CM000664.2:g.240874043T>C GRCh38
NC_000002.11:g.241813460T>C , CM000664.1:g.241813460T>C GRCh37
NC_000002.10:g.241462133T>C NCBI36
NG_008005.1:g.10299T>C

Transcript Alleles

HGVS Amino-acid change
NM_000030.2:c.661T>C VV NP_000021.1:p.Ser221Pro
NM_000030.3:c.661T>C VV MANE Preferred
ENST00000307503.3:c.661T>C ENSP00000302620.3:p.Ser221Pro
ENST00000476698.1:n.332+994T>C