Canonical Allele Identifier: CA5095596
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 779257
ClinVar RCV Id: RCV000960047 RCV002275207
dbSNP Id: rs370268538
ExAC: 9:80919852 T / C
gnomAD v2: 9-80919852-T-C
gnomAD v3: 9-78304936-T-C
gnomAD v4: 9-78304936-T-C
MyVariant Identifiers: chr9:g.80919852T>C (hg19) chr9:g.78304936T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304936T>C , CM000671.2:g.78304936T>C GRCh38
NC_000009.11:g.80919852T>C , CM000671.1:g.80919852T>C GRCh37
NC_000009.10:g.80109672T>C NCBI36
NG_012165.1:g.12794T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.393T>C MANE Select ENSP00000365773.3:p.Tyr131=
ENST00000347159.6:c.393T>C ENSP00000317606.2:p.Tyr131=
ENST00000376588.3:c.393T>C ENSP00000365773.3:p.Tyr131=
NM_021154.4:c.393T>C NP_066977.1:p.Tyr131=
NM_058179.3:c.393T>C NP_478059.1:p.Tyr131=
NM_058179.4:c.393T>C MANE Select NP_478059.1:p.Tyr131=
NM_021154.5:c.393T>C NP_066977.1:p.Tyr131=
Search 100 bp 5'
Search 100 bp 3'