Canonical Allele Identifier: CA194440800

Gene: PSAT1

Linked Data

• dbSNP Id: rs999711291
• gnomAD v2: 9-80919533-A-G
• gnomAD v3: 9-78304617-A-G
• gnomAD v4: 9-78304617-A-G
• MyVariant Identifiers: chr9:g.80919533A>G (hg19) ; chr9:g.78304617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78304617A>G , CM000671.2:g.78304617A>G	GRCh38
NC_000009.11:g.80919533A>G , CM000671.1:g.80919533A>G	GRCh37
NC_000009.10:g.80109353A>G	NCBI36
NG_012165.1:g.12475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.192-118A>G MANE Select	ENSP00000365773.3:n.192-118A>G
ENST00000347159.6:c.192-118A>G	ENSP00000317606.2:n.192-118A>G
ENST00000376588.3:c.192-118A>G	ENSP00000365773.3:n.192-118A>G
NM_021154.4:c.192-118A>G	NP_066977.1:n.192-118A>G
NM_058179.3:c.192-118A>G	NP_478059.1:n.192-118A>G
NM_058179.4:c.192-118A>G MANE Select	NP_478059.1:n.192-118A>G
NM_021154.5:c.192-118A>G	NP_066977.1:n.192-118A>G