Canonical Allele Identifier: CA170850
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156364
dbSNP Id: rs587777778
gnomAD v2: 9-80919755-C-T
gnomAD v3: 9-78304839-C-T
gnomAD v4: 9-78304839-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304839C>T , CM000671.2:g.78304839C>T GRCh38
NC_000009.11:g.80919755C>T , CM000671.1:g.80919755C>T GRCh37
NC_000009.10:g.80109575C>T NCBI36
NG_012165.1:g.12697C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.296C>T MANE Select ENSP00000365773.3:p.Ala99Val
ENST00000347159.6:c.296C>T ENSP00000317606.2:p.Ala99Val
ENST00000376588.3:c.296C>T ENSP00000365773.3:p.Ala99Val
NM_021154.4:c.296C>T NP_066977.1:p.Ala99Val
NM_058179.3:c.296C>T NP_478059.1:p.Ala99Val
NM_058179.4:c.296C>T MANE Select NP_478059.1:p.Ala99Val
NM_021154.5:c.296C>T NP_066977.1:p.Ala99Val