Canonical Allele Identifier: CA5095585

Gene: PSAT1

Linked Data

• ClinVar Variation Id: 976985
• ClinVar RCV Id: RCV001254497 ; RCV001879900
• dbSNP Id: rs373888510
• ExAC: 9:80919797 A / T
• gnomAD v2: 9-80919797-A-T
• gnomAD v3: 9-78304881-A-T
• gnomAD v4: 9-78304881-A-T
• MyVariant Identifiers: chr9:g.80919797A>T (hg19) ; chr9:g.78304881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78304881A>T , CM000671.2:g.78304881A>T	GRCh38
NC_000009.11:g.80919797A>T , CM000671.1:g.80919797A>T	GRCh37
NC_000009.10:g.80109617A>T	NCBI36
NG_012165.1:g.12739A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.338A>T MANE Select	ENSP00000365773.3:p.Glu113Val
ENST00000347159.6:c.338A>T	ENSP00000317606.2:p.Glu113Val
ENST00000376588.3:c.338A>T	ENSP00000365773.3:p.Glu113Val
NM_021154.4:c.338A>T	NP_066977.1:p.Glu113Val
NM_058179.3:c.338A>T	NP_478059.1:p.Glu113Val
NM_058179.4:c.338A>T MANE Select	NP_478059.1:p.Glu113Val
NM_021154.5:c.338A>T	NP_066977.1:p.Glu113Val