Canonical Allele Identifier: CA194419475
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs961239861
gnomAD v3: 9-78329969-T-C
gnomAD v4: 9-78329969-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329969T>C , CM000671.2:g.78329969T>C GRCh38
NC_000009.11:g.80944885T>C , CM000671.1:g.80944885T>C GRCh37
NC_000009.10:g.80134705T>C NCBI36
NG_012165.1:g.37827T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*883T>C MANE Select ENSP00000365773.3:n.*883T>C
ENST00000376588.3:c.*883T>C ENSP00000365773.3:n.*883T>C
NM_021154.4:c.*883T>C NP_066977.1:n.*883T>C
NM_058179.3:c.*883T>C NP_478059.1:n.*883T>C
NM_058179.4:c.*883T>C MANE Select NP_478059.1:n.*883T>C
NM_021154.5:c.*883T>C NP_066977.1:n.*883T>C