Canonical Allele Identifier: CA5283570

Gene: ASS1

Linked Data

• ClinVar Variation Id: 970822
• ClinVar RCV Id: RCV001246468 ; RCV002241559
• dbSNP Id: rs771640767
• ExAC: 9:133364792 G / A
• gnomAD v2: 9-133364792-G-A
• gnomAD v3: 9-130489405-G-A
• gnomAD v4: 9-130489405-G-A
• COSMIC: COSM5006929
• MyVariant Identifiers: chr9:g.133364792G>A (hg19) ; chr9:g.130489405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489405G>A , CM000671.2:g.130489405G>A	GRCh38
NC_000009.11:g.133364792G>A , CM000671.1:g.133364792G>A	GRCh37
NC_000009.10:g.132354613G>A	NCBI36
NG_011542.1:g.49699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.911G>A MANE Select	ENSP00000253004.6:p.Arg304Gln
ENST00000352480.9:c.911G>A	ENSP00000253004.6:p.Arg304Gln
ENST00000372386.6:n.182G>A
ENST00000372393.7:c.911G>A	ENSP00000361469.2:p.Arg304Gln
ENST00000372394.5:c.911G>A	ENSP00000361471.1:p.Arg304Gln
ENST00000470849.4:n.636G>A
ENST00000492400.5:n.420G>A
NM_000050.4:c.911G>A	NP_000041.2:p.Arg304Gln
NM_054012.3:c.911G>A	NP_446464.1:p.Arg304Gln
XM_005272200.2:c.911G>A	XP_005272257.1:p.Arg304Gln
XM_011518705.1:c.1025G>A	XP_011517007.1:p.Arg342Gln
XM_005272200.3:c.911G>A	XP_005272257.1:p.Arg304Gln
XM_011518705.2:c.1025G>A	XP_011517007.1:p.Arg342Gln
XM_017014729.1:c.1007G>A	XP_016870218.1:p.Arg336Gln
NM_054012.4:c.911G>A MANE Select	NP_446464.1:p.Arg304Gln