Canonical Allele Identifier: CA2690396786
Gene: PSAT1 HGNC NCBI

Linked Data

gnomAD v4: 9-78300653-A-AGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300654_78300655insCTG , CM000671.2:g.78300654_78300655insCTG GRCh38
NC_000009.11:g.80915570_80915571insCTG , CM000671.1:g.80915570_80915571insCTG GRCh37
NC_000009.10:g.80105390_80105391insCTG NCBI36
NG_012165.1:g.8512_8513insCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.113_114insCTG MANE Select ENSP00000365773.3:p.Ser38_Val39insCys
ENST00000347159.6:c.113_114insCTG ENSP00000317606.2:p.Ser38_Val39insCys
ENST00000376588.3:c.113_114insCTG ENSP00000365773.3:p.Ser38_Val39insCys
NM_021154.4:c.113_114insCTG NP_066977.1:p.Ser38_Val39insCys
NM_058179.3:c.113_114insCTG NP_478059.1:p.Ser38_Val39insCys
NM_058179.4:c.113_114insCTG MANE Select NP_478059.1:p.Ser38_Val39insCys
NM_021154.5:c.113_114insCTG NP_066977.1:p.Ser38_Val39insCys
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