Canonical Allele Identifier: CA5095586
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 976986
ClinVar RCV Id: RCV001254498
dbSNP Id: rs771692853
ExAC: 9:80919800 A / C
gnomAD v2: 9-80919800-A-C
gnomAD v4: 9-78304884-A-C
MyVariant Identifiers: chr9:g.80919800A>C (hg19) chr9:g.78304884A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304884A>C , CM000671.2:g.78304884A>C GRCh38
NC_000009.11:g.80919800A>C , CM000671.1:g.80919800A>C GRCh37
NC_000009.10:g.80109620A>C NCBI36
NG_012165.1:g.12742A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.341A>C MANE Select ENSP00000365773.3:p.Glu114Ala
ENST00000347159.6:c.341A>C ENSP00000317606.2:p.Glu114Ala
ENST00000376588.3:c.341A>C ENSP00000365773.3:p.Glu114Ala
NM_021154.4:c.341A>C NP_066977.1:p.Glu114Ala
NM_058179.3:c.341A>C NP_478059.1:p.Glu114Ala
NM_058179.4:c.341A>C MANE Select NP_478059.1:p.Glu114Ala
NM_021154.5:c.341A>C NP_066977.1:p.Glu114Ala
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