Canonical Allele Identifier: CA1125785060
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1007957619
gnomAD v3: 9-78329872-T-C
gnomAD v4: 9-78329872-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329872T>C , CM000671.2:g.78329872T>C GRCh38
NC_000009.11:g.80944788T>C , CM000671.1:g.80944788T>C GRCh37
NC_000009.10:g.80134608T>C NCBI36
NG_012165.1:g.37730T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*786T>C MANE Select ENSP00000365773.3:n.*786T>C
ENST00000376588.3:c.*786T>C ENSP00000365773.3:n.*786T>C
NM_021154.4:c.*786T>C NP_066977.1:n.*786T>C
NM_058179.3:c.*786T>C NP_478059.1:n.*786T>C
NM_058179.4:c.*786T>C MANE Select NP_478059.1:n.*786T>C
NM_021154.5:c.*786T>C NP_066977.1:n.*786T>C
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