Canonical Allele Identifier: CA274183
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 188957
ClinVar RCV Id: RCV000169332
dbSNP Id: rs180177157

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868971C>T , CM000664.2:g.240868971C>T GRCh38
NC_000002.11:g.241808388C>T , CM000664.1:g.241808388C>T GRCh37
NC_000002.10:g.241457061C>T NCBI36
NG_008005.1:g.5227C>T

Transcript Alleles

HGVS Amino-acid change
NM_000030.2:c.106C>T VV NP_000021.1:p.Arg36Cys
XR_924060.1:n.405+1262G>A
NM_000030.3:c.106C>T VV MANE Preferred NP_000021.1:p.Arg36Cys
ENST00000307503.3:c.106C>T ENSP00000302620.3:p.Arg36Cys
ENST00000472436.1:n.126C>T