Canonical Allele Identifier: CA2690398494
Gene: PSAT1 HGNC NCBI

Linked Data

gnomAD v4: 9-78329846-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329846G>T , CM000671.2:g.78329846G>T GRCh38
NC_000009.11:g.80944762G>T , CM000671.1:g.80944762G>T GRCh37
NC_000009.10:g.80134582G>T NCBI36
NG_012165.1:g.37704G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*760G>T MANE Select ENSP00000365773.3:n.*760G>T
ENST00000376588.3:c.*760G>T ENSP00000365773.3:n.*760G>T
NM_021154.4:c.*760G>T NP_066977.1:n.*760G>T
NM_058179.3:c.*760G>T NP_478059.1:n.*760G>T
NM_058179.4:c.*760G>T MANE Select NP_478059.1:n.*760G>T
NM_021154.5:c.*760G>T NP_066977.1:n.*760G>T