Canonical Allele Identifier: CA5095594
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 977035
ClinVar RCV Id: RCV001254554
dbSNP Id: rs763223623
ExAC: 9:80919841 C / T
gnomAD v2: 9-80919841-C-T
gnomAD v4: 9-78304925-C-T
MyVariant Identifiers: chr9:g.80919841C>T (hg19) chr9:g.78304925C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304925C>T , CM000671.2:g.78304925C>T GRCh38
NC_000009.11:g.80919841C>T , CM000671.1:g.80919841C>T GRCh37
NC_000009.10:g.80109661C>T NCBI36
NG_012165.1:g.12783C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.382C>T MANE Select ENSP00000365773.3:p.Leu128Phe
ENST00000347159.6:c.382C>T ENSP00000317606.2:p.Leu128Phe
ENST00000376588.3:c.382C>T ENSP00000365773.3:p.Leu128Phe
NM_021154.4:c.382C>T NP_066977.1:p.Leu128Phe
NM_058179.3:c.382C>T NP_478059.1:p.Leu128Phe
NM_058179.4:c.382C>T MANE Select NP_478059.1:p.Leu128Phe
NM_021154.5:c.382C>T NP_066977.1:p.Leu128Phe
Search 100 bp 5'
Search 100 bp 3'