Canonical Allele Identifier: CA5095584
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 913717
ClinVar RCV Id: RCV001167492 RCV001254448 RCV001873553
dbSNP Id: rs778303528
ExAC: 9:80919794 C / T
gnomAD v2: 9-80919794-C-T
gnomAD v3: 9-78304878-C-T
gnomAD v4: 9-78304878-C-T
MyVariant Identifiers: chr9:g.80919794C>T (hg19) chr9:g.78304878C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304878C>T , CM000671.2:g.78304878C>T GRCh38
NC_000009.11:g.80919794C>T , CM000671.1:g.80919794C>T GRCh37
NC_000009.10:g.80109614C>T NCBI36
NG_012165.1:g.12736C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.335C>T MANE Select ENSP00000365773.3:p.Ala112Val
ENST00000347159.6:c.335C>T ENSP00000317606.2:p.Ala112Val
ENST00000376588.3:c.335C>T ENSP00000365773.3:p.Ala112Val
NM_021154.4:c.335C>T NP_066977.1:p.Ala112Val
NM_058179.3:c.335C>T NP_478059.1:p.Ala112Val
NM_058179.4:c.335C>T MANE Select NP_478059.1:p.Ala112Val
NM_021154.5:c.335C>T NP_066977.1:p.Ala112Val
Search 100 bp 5'
Search 100 bp 3'