Canonical Allele Identifier: CA373871596
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1396737669
gnomAD v2: 9-80915571-T-A
MyVariant Identifiers: chr9:g.80915571T>A (hg19) chr9:g.78300655T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300655T>A , CM000671.2:g.78300655T>A GRCh38
NC_000009.11:g.80915571T>A , CM000671.1:g.80915571T>A GRCh37
NC_000009.10:g.80105391T>A NCBI36
NG_012165.1:g.8513T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.114T>A MANE Select ENSP00000365773.3:p.Ser38Arg
ENST00000347159.6:c.114T>A ENSP00000317606.2:p.Ser38Arg
ENST00000376588.3:c.114T>A ENSP00000365773.3:p.Ser38Arg
NM_021154.4:c.114T>A NP_066977.1:p.Ser38Arg
NM_058179.3:c.114T>A NP_478059.1:p.Ser38Arg
NM_058179.4:c.114T>A MANE Select NP_478059.1:p.Ser38Arg
NM_021154.5:c.114T>A NP_066977.1:p.Ser38Arg
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