Canonical Allele Identifier: CA588775344
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs962980938
gnomAD v2: 9-80919887-C-T
gnomAD v3: 9-78304971-C-T
gnomAD v4: 9-78304971-C-T
MyVariant Identifiers: chr9:g.80919887C>T (hg19) chr9:g.78304971C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304971C>T , CM000671.2:g.78304971C>T GRCh38
NC_000009.11:g.80919887C>T , CM000671.1:g.80919887C>T GRCh37
NC_000009.10:g.80109707C>T NCBI36
NG_012165.1:g.12829C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.397+31C>T MANE Select ENSP00000365773.3:n.397+31C>T
ENST00000347159.6:c.397+31C>T ENSP00000317606.2:n.397+31C>T
ENST00000376588.3:c.397+31C>T ENSP00000365773.3:n.397+31C>T
NM_021154.4:c.397+31C>T NP_066977.1:n.397+31C>T
NM_058179.3:c.397+31C>T NP_478059.1:n.397+31C>T
NM_058179.4:c.397+31C>T MANE Select NP_478059.1:n.397+31C>T
NM_021154.5:c.397+31C>T NP_066977.1:n.397+31C>T
Search 100 bp 5'
Search 100 bp 3'