Canonical Allele Identifier: CA467384954

Gene: ASS1

Linked Data

• gnomAD v4: 9-130480446-C-A
• MyVariant Identifiers: chr9:g.133355833C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480446C>A , CM000671.2:g.130480446C>A	GRCh38
NC_000009.11:g.133355833C>A , CM000671.1:g.133355833C>A	GRCh37
NC_000009.10:g.132345654C>A	NCBI36
NG_011542.1:g.40740C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.835C>A MANE Select	ENSP00000253004.6:p.Arg279=
ENST00000352480.9:c.835C>A	ENSP00000253004.6:p.Arg279=
ENST00000372386.6:n.106C>A
ENST00000372393.7:c.835C>A	ENSP00000361469.2:p.Arg279=
ENST00000372394.5:c.835C>A	ENSP00000361471.1:p.Arg279=
ENST00000470849.4:n.560C>A
ENST00000492400.5:n.344C>A
ENST00000493984.6:n.612C>A
NM_000050.4:c.835C>A	NP_000041.2:p.Arg279=
NM_054012.3:c.835C>A	NP_446464.1:p.Arg279=
XM_005272200.2:c.835C>A	XP_005272257.1:p.Arg279=
XM_011518705.1:c.949C>A	XP_011517007.1:p.Arg317=
XM_005272200.3:c.835C>A	XP_005272257.1:p.Arg279=
XM_011518705.2:c.949C>A	XP_011517007.1:p.Arg317=
XM_017014729.1:c.931C>A	XP_016870218.1:p.Arg311=
NM_054012.4:c.835C>A MANE Select	NP_446464.1:p.Arg279=