Canonical Allele Identifier: CA194441078
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 976882
ClinVar RCV Id: RCV001254378
dbSNP Id: rs370535310
gnomAD v2: 9-80919770-C-T
gnomAD v3: 9-78304854-C-T
gnomAD v4: 9-78304854-C-T
MyVariant Identifiers: chr9:g.80919770C>T (hg19) chr9:g.78304854C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304854C>T , CM000671.2:g.78304854C>T GRCh38
NC_000009.11:g.80919770C>T , CM000671.1:g.80919770C>T GRCh37
NC_000009.10:g.80109590C>T NCBI36
NG_012165.1:g.12712C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.311C>T MANE Select ENSP00000365773.3:p.Thr104Ile
ENST00000347159.6:c.311C>T ENSP00000317606.2:p.Thr104Ile
ENST00000376588.3:c.311C>T ENSP00000365773.3:p.Thr104Ile
NM_021154.4:c.311C>T NP_066977.1:p.Thr104Ile
NM_058179.3:c.311C>T NP_478059.1:p.Thr104Ile
NM_058179.4:c.311C>T MANE Select NP_478059.1:p.Thr104Ile
NM_021154.5:c.311C>T NP_066977.1:p.Thr104Ile
Search 100 bp 5'
Search 100 bp 3'