Canonical Allele Identifier: CA170850

Gene: PSAT1

Linked Data

• ClinVar Variation Id: 156364
• ClinVar RCV Id: RCV000144448 ; RCV001254372
• dbSNP Id: rs587777778
• ExAC: 9:80919755 C / T
• gnomAD v2: 9-80919755-C-T
• gnomAD v3: 9-78304839-C-T
• gnomAD v4: 9-78304839-C-T
• MyVariant Identifiers: chr9:g.80919755C>T (hg19) ; chr9:g.78304839C>T (hg38)
• PubMed: PMID:25152457

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