Canonical Allele Identifier: CA1125785091
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1828556051
gnomAD v3: 9-78329963-C-T
gnomAD v4: 9-78329963-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329963C>T , CM000671.2:g.78329963C>T GRCh38
NC_000009.11:g.80944879C>T , CM000671.1:g.80944879C>T GRCh37
NC_000009.10:g.80134699C>T NCBI36
NG_012165.1:g.37821C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*877C>T MANE Select ENSP00000365773.3:n.*877C>T
ENST00000376588.3:c.*877C>T ENSP00000365773.3:n.*877C>T
NM_021154.4:c.*877C>T NP_066977.1:n.*877C>T
NM_058179.3:c.*877C>T NP_478059.1:n.*877C>T
NM_058179.4:c.*877C>T MANE Select NP_478059.1:n.*877C>T
NM_021154.5:c.*877C>T NP_066977.1:n.*877C>T
Search 100 bp 5'
Search 100 bp 3'