Canonical Allele Identifier: CA114739
Gene: PSAT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1082
ClinVar RCV Id: RCV000001137
dbSNP Id: rs118203967

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304842A>C , CM000671.2:g.78304842A>C GRCh38
NC_000009.10:g.80109578A>C NCBI36
NC_000009.11:g.80919758A>C , CM000671.1:g.80919758A>C GRCh37
NG_012165.1:g.12700A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000347159.6:c.299A>C ENSP00000317606.2:p.Asp100Ala
ENST00000376588.3:c.299A>C ENSP00000365773.3:p.Asp100Ala
NM_021154.4:c.299A>C VV NP_066977.1:p.Asp100Ala
NM_058179.3:c.299A>C VV NP_478059.1:p.Asp100Ala