Canonical Allele Identifier: CA2579362210
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2722660
ClinVar RCV Id: RCV003587095
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304900del , CM000671.2:g.78304900del GRCh38
NC_000009.11:g.80919816del , CM000671.1:g.80919816del GRCh37
NC_000009.10:g.80109636del NCBI36
NG_012165.1:g.12758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.357del MANE Select ENSP00000365773.3:p.Thr120LeufsTer2
ENST00000347159.6:c.357del ENSP00000317606.2:p.Thr120LeufsTer2
ENST00000376588.3:c.357del ENSP00000365773.3:p.Thr120LeufsTer2
NM_021154.4:c.357del NP_066977.1:p.Thr120LeufsTer2
NM_058179.3:c.357del NP_478059.1:p.Thr120LeufsTer2
NM_058179.4:c.357del MANE Select NP_478059.1:p.Thr120LeufsTer2
NM_021154.5:c.357del NP_066977.1:p.Thr120LeufsTer2
Search 100 bp 5'
Search 100 bp 3'