Canonical Allele Identifier: CA373872367
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 976936
ClinVar RCV Id: RCV001254441
dbSNP Id: rs767276592
gnomAD v2: 9-80919775-G-A
gnomAD v4: 9-78304859-G-A
MyVariant Identifiers: chr9:g.80919775G>A (hg19) chr9:g.78304859G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304859G>A , CM000671.2:g.78304859G>A GRCh38
NC_000009.11:g.80919775G>A , CM000671.1:g.80919775G>A GRCh37
NC_000009.10:g.80109595G>A NCBI36
NG_012165.1:g.12717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.316G>A MANE Select ENSP00000365773.3:p.Ala106Thr
ENST00000347159.6:c.316G>A ENSP00000317606.2:p.Ala106Thr
ENST00000376588.3:c.316G>A ENSP00000365773.3:p.Ala106Thr
NM_021154.4:c.316G>A NP_066977.1:p.Ala106Thr
NM_058179.3:c.316G>A NP_478059.1:p.Ala106Thr
NM_058179.4:c.316G>A MANE Select NP_478059.1:p.Ala106Thr
NM_021154.5:c.316G>A NP_066977.1:p.Ala106Thr
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