Canonical Allele Identifier: CA5095479

Gene: PSAT1

Linked Data

• ClinVar Variation Id: 367451
• ClinVar RCV Id: RCV000390253 ; RCV001252716 ; RCV001254429 ; RCV001861350
• dbSNP Id: rs774962204
• ExAC: 9:80912169 G / C
• gnomAD v2: 9-80912169-G-C
• gnomAD v3: 9-78297253-G-C
• gnomAD v4: 9-78297253-G-C
• MyVariant Identifiers: chr9:g.80912169G>C (hg19) ; chr9:g.78297253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78297253G>C , CM000671.2:g.78297253G>C	GRCh38
NC_000009.11:g.80912169G>C , CM000671.1:g.80912169G>C	GRCh37
NC_000009.10:g.80101989G>C	NCBI36
NG_012165.1:g.5111G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.43G>C MANE Select	ENSP00000365773.3:p.Ala15Pro
ENST00000347159.6:c.43G>C	ENSP00000317606.2:p.Ala15Pro
ENST00000376588.3:c.43G>C	ENSP00000365773.3:p.Ala15Pro
NM_021154.4:c.43G>C	NP_066977.1:p.Ala15Pro
NM_058179.3:c.43G>C	NP_478059.1:p.Ala15Pro
NM_058179.4:c.43G>C MANE Select	NP_478059.1:p.Ala15Pro
NM_021154.5:c.43G>C	NP_066977.1:p.Ala15Pro