Canonical Allele Identifier: CA867157006
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1189319180
gnomAD v3: 9-78329856-C-T
gnomAD v4: 9-78329856-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329856C>T , CM000671.2:g.78329856C>T GRCh38
NC_000009.11:g.80944772C>T , CM000671.1:g.80944772C>T GRCh37
NC_000009.10:g.80134592C>T NCBI36
NG_012165.1:g.37714C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*770C>T MANE Select ENSP00000365773.3:n.*770C>T
ENST00000376588.3:c.*770C>T ENSP00000365773.3:n.*770C>T
NM_021154.4:c.*770C>T NP_066977.1:n.*770C>T
NM_058179.3:c.*770C>T NP_478059.1:n.*770C>T
NM_058179.4:c.*770C>T MANE Select NP_478059.1:n.*770C>T
NM_021154.5:c.*770C>T NP_066977.1:n.*770C>T