Canonical Allele Identifier: CA275767
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204140
ClinVar RCV Id: RCV000186347
dbSNP Id: rs180177299

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878035C>T , CM000664.2:g.240878035C>T GRCh38
NC_000002.10:g.241466125C>T NCBI36
NC_000002.11:g.241817452C>T , CM000664.1:g.241817452C>T GRCh37
NG_008005.1:g.14291C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.3:c.956C>T ENSP00000302620.3:p.Pro319Leu
ENST00000470255.1:n.734C>T
NM_000030.2:c.956C>T VV NP_000021.1:p.Pro319Leu