Canonical Allele Identifier: CA373872380
Gene: PSAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304862T>C , CM000671.2:g.78304862T>C GRCh38
NC_000009.11:g.80919778T>C , CM000671.1:g.80919778T>C GRCh37
NC_000009.10:g.80109598T>C NCBI36
NG_012165.1:g.12720T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.319T>C MANE Select ENSP00000365773.3:p.Trp107Arg
ENST00000347159.6:c.319T>C ENSP00000317606.2:p.Trp107Arg
ENST00000376588.3:c.319T>C ENSP00000365773.3:p.Trp107Arg
NM_021154.4:c.319T>C NP_066977.1:p.Trp107Arg
NM_058179.3:c.319T>C NP_478059.1:p.Trp107Arg
NM_058179.4:c.319T>C MANE Select NP_478059.1:p.Trp107Arg
NM_021154.5:c.319T>C NP_066977.1:p.Trp107Arg