Canonical Allele Identifier: CA194419488
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs973017363
gnomAD v2: 9-80944909-C-T
gnomAD v3: 9-78329993-C-T
gnomAD v4: 9-78329993-C-T
COSMIC: COSN26324655
MyVariant Identifiers: chr9:g.80944909C>T (hg19) chr9:g.78329993C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329993C>T , CM000671.2:g.78329993C>T GRCh38
NC_000009.11:g.80944909C>T , CM000671.1:g.80944909C>T GRCh37
NC_000009.10:g.80134729C>T NCBI36
NG_012165.1:g.37851C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*907C>T MANE Select ENSP00000365773.3:n.*907C>T
ENST00000376588.3:c.*907C>T ENSP00000365773.3:n.*907C>T
NM_021154.4:c.*907C>T NP_066977.1:n.*907C>T
NM_058179.3:c.*907C>T NP_478059.1:n.*907C>T
NM_058179.4:c.*907C>T MANE Select NP_478059.1:n.*907C>T
NM_021154.5:c.*907C>T NP_066977.1:n.*907C>T
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