Canonical Allele Identifier: CA5095606

Gene: PSAT1

Linked Data

• dbSNP Id: rs536714260
• ExAC: 9:80919906 C / A
• gnomAD v2: 9-80919906-C-A
• gnomAD v4: 9-78304990-C-A
• MyVariant Identifiers: chr9:g.80919906C>A (hg19) ; chr9:g.78304990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78304990C>A , CM000671.2:g.78304990C>A	GRCh38
NC_000009.11:g.80919906C>A , CM000671.1:g.80919906C>A	GRCh37
NC_000009.10:g.80109726C>A	NCBI36
NG_012165.1:g.12848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.397+50C>A MANE Select	ENSP00000365773.3:n.397+50C>A
ENST00000347159.6:c.397+50C>A	ENSP00000317606.2:n.397+50C>A
ENST00000376588.3:c.397+50C>A	ENSP00000365773.3:n.397+50C>A
NM_021154.4:c.397+50C>A	NP_066977.1:n.397+50C>A
NM_058179.3:c.397+50C>A	NP_478059.1:n.397+50C>A
NM_058179.4:c.397+50C>A MANE Select	NP_478059.1:n.397+50C>A
NM_021154.5:c.397+50C>A	NP_066977.1:n.397+50C>A