Canonical Allele Identifier: CA5095581

Gene: PSAT1

Linked Data

• ClinVar Variation Id: 623438
• ClinVar RCV Id: RCV000785711 ; RCV001254445 ; RCV001869042
• dbSNP Id: rs753331548
• ExAC: 9:80919787 A / C
• gnomAD v2: 9-80919787-A-C
• gnomAD v3: 9-78304871-A-C
• gnomAD v4: 9-78304871-A-C
• COSMIC: COSM3218562
• MyVariant Identifiers: chr9:g.80919787A>C (hg19) ; chr9:g.78304871A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78304871A>C , CM000671.2:g.78304871A>C	GRCh38
NC_000009.11:g.80919787A>C , CM000671.1:g.80919787A>C	GRCh37
NC_000009.10:g.80109607A>C	NCBI36
NG_012165.1:g.12729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.328A>C MANE Select	ENSP00000365773.3:p.Lys110Gln
ENST00000347159.6:c.328A>C	ENSP00000317606.2:p.Lys110Gln
ENST00000376588.3:c.328A>C	ENSP00000365773.3:p.Lys110Gln
NM_021154.4:c.328A>C	NP_066977.1:p.Lys110Gln
NM_058179.3:c.328A>C	NP_478059.1:p.Lys110Gln
NM_058179.4:c.328A>C MANE Select	NP_478059.1:p.Lys110Gln
NM_021154.5:c.328A>C	NP_066977.1:p.Lys110Gln