Canonical Allele Identifier: CA10634447
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 367470
ClinVar RCV Id: RCV000343485
dbSNP Id: rs529821810
gnomAD v2: 9-80944867-C-G
gnomAD v3: 9-78329951-C-G
gnomAD v4: 9-78329951-C-G
MyVariant Identifiers: chr9:g.80944867C>G (hg19) chr9:g.78329951C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329951C>G , CM000671.2:g.78329951C>G GRCh38
NC_000009.11:g.80944867C>G , CM000671.1:g.80944867C>G GRCh37
NC_000009.10:g.80134687C>G NCBI36
NG_012165.1:g.37809C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*865C>G MANE Select ENSP00000365773.3:n.*865C>G
ENST00000376588.3:c.*865C>G ENSP00000365773.3:n.*865C>G
NM_021154.4:c.*865C>G NP_066977.1:n.*865C>G
NM_058179.3:c.*865C>G NP_478059.1:n.*865C>G
NM_058179.4:c.*865C>G MANE Select NP_478059.1:n.*865C>G
NM_021154.5:c.*865C>G NP_066977.1:n.*865C>G
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