Canonical Allele Identifier: CA5283582

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1026886
• ClinVar RCV Id: RCV001327407 ; RCV001836318
• dbSNP Id: rs373473841
• ExAC: 9:133364846 A / G
• gnomAD v2: 9-133364846-A-G
• gnomAD v3: 9-130489459-A-G
• gnomAD v4: 9-130489459-A-G
• COSMIC: COSM1319649
• MyVariant Identifiers: chr9:g.133364846A>G (hg19) ; chr9:g.130489459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489459A>G , CM000671.2:g.130489459A>G	GRCh38
NC_000009.11:g.133364846A>G , CM000671.1:g.133364846A>G	GRCh37
NC_000009.10:g.132354667A>G	NCBI36
NG_011542.1:g.49753A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.965A>G MANE Select	ENSP00000253004.6:p.Tyr322Cys
ENST00000352480.9:c.965A>G	ENSP00000253004.6:p.Tyr322Cys
ENST00000372386.6:n.236A>G
ENST00000372393.7:c.965A>G	ENSP00000361469.2:p.Tyr322Cys
ENST00000372394.5:c.965A>G	ENSP00000361471.1:p.Tyr322Cys
NM_000050.4:c.965A>G	NP_000041.2:p.Tyr322Cys
NM_054012.3:c.965A>G	NP_446464.1:p.Tyr322Cys
XM_005272200.2:c.965A>G	XP_005272257.1:p.Tyr322Cys
XM_011518705.1:c.1079A>G	XP_011517007.1:p.Tyr360Cys
XM_005272200.3:c.965A>G	XP_005272257.1:p.Tyr322Cys
XM_011518705.2:c.1079A>G	XP_011517007.1:p.Tyr360Cys
XM_017014729.1:c.1061A>G	XP_016870218.1:p.Tyr354Cys
NM_054012.4:c.965A>G MANE Select	NP_446464.1:p.Tyr322Cys