Canonical Allele Identifier: CA5095583
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 936099
ClinVar RCV Id: RCV001254446 RCV001204830
dbSNP Id: rs753859574
ExAC: 9:80919793 G / A
gnomAD v2: 9-80919793-G-A
gnomAD v3: 9-78304877-G-A
gnomAD v4: 9-78304877-G-A
MyVariant Identifiers: chr9:g.80919793G>A (hg19) chr9:g.78304877G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304877G>A , CM000671.2:g.78304877G>A GRCh38
NC_000009.11:g.80919793G>A , CM000671.1:g.80919793G>A GRCh37
NC_000009.10:g.80109613G>A NCBI36
NG_012165.1:g.12735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.334G>A MANE Select ENSP00000365773.3:p.Ala112Thr
ENST00000347159.6:c.334G>A ENSP00000317606.2:p.Ala112Thr
ENST00000376588.3:c.334G>A ENSP00000365773.3:p.Ala112Thr
NM_021154.4:c.334G>A NP_066977.1:p.Ala112Thr
NM_058179.3:c.334G>A NP_478059.1:p.Ala112Thr
NM_058179.4:c.334G>A MANE Select NP_478059.1:p.Ala112Thr
NM_021154.5:c.334G>A NP_066977.1:p.Ala112Thr
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