Canonical Allele Identifier: CA5095502

Gene: PSAT1

Linked Data

• ClinVar Variation Id: 976973
• ClinVar RCV Id: RCV001254484 ; RCV001879898
• dbSNP Id: rs373736401
• ExAC: 9:80915551 T / C
• gnomAD v2: 9-80915551-T-C
• gnomAD v3: 9-78300635-T-C
• gnomAD v4: 9-78300635-T-C
• MyVariant Identifiers: chr9:g.80915551T>C (hg19) ; chr9:g.78300635T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78300635T>C , CM000671.2:g.78300635T>C	GRCh38
NC_000009.11:g.80915551T>C , CM000671.1:g.80915551T>C	GRCh37
NC_000009.10:g.80105371T>C	NCBI36
NG_012165.1:g.8493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.94T>C MANE Select	ENSP00000365773.3:p.Tyr32His
ENST00000347159.6:c.94T>C	ENSP00000317606.2:p.Tyr32His
ENST00000376588.3:c.94T>C	ENSP00000365773.3:p.Tyr32His
NM_021154.4:c.94T>C	NP_066977.1:p.Tyr32His
NM_058179.3:c.94T>C	NP_478059.1:p.Tyr32His
NM_058179.4:c.94T>C MANE Select	NP_478059.1:p.Tyr32His
NM_021154.5:c.94T>C	NP_066977.1:p.Tyr32His