Canonical Allele Identifier: CA373872022
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 976981
ClinVar RCV Id: RCV001254493
dbSNP Id: rs542332287
MyVariant Identifiers: chr9:g.80919672G>C (hg19) chr9:g.78304756G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304756G>C , CM000671.2:g.78304756G>C GRCh38
NC_000009.11:g.80919672G>C , CM000671.1:g.80919672G>C GRCh37
NC_000009.10:g.80109492G>C NCBI36
NG_012165.1:g.12614G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.213G>C MANE Select ENSP00000365773.3:p.Lys71Asn
ENST00000347159.6:c.213G>C ENSP00000317606.2:p.Lys71Asn
ENST00000376588.3:c.213G>C ENSP00000365773.3:p.Lys71Asn
NM_021154.4:c.213G>C NP_066977.1:p.Lys71Asn
NM_058179.3:c.213G>C NP_478059.1:p.Lys71Asn
NM_058179.4:c.213G>C MANE Select NP_478059.1:p.Lys71Asn
NM_021154.5:c.213G>C NP_066977.1:p.Lys71Asn
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