Canonical Allele Identifier: CA467389247

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2092012
• ClinVar RCV Id: RCV003008100
• gnomAD v4: 9-130471497-A-G
• MyVariant Identifiers: chr9:g.133346884A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471497A>G , CM000671.2:g.130471497A>G	GRCh38
NC_000009.11:g.133346884A>G , CM000671.1:g.133346884A>G	GRCh37
NC_000009.10:g.132336705A>G	NCBI36
NG_011542.1:g.31791A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.579A>G MANE Select	ENSP00000253004.6:p.Gly193=
ENST00000352480.9:c.579A>G	ENSP00000253004.6:p.Gly193=
ENST00000372393.7:c.579A>G	ENSP00000361469.2:p.Gly193=
ENST00000372394.5:c.579A>G	ENSP00000361471.1:p.Gly193=
ENST00000422569.5:c.579A>G	ENSP00000394212.1:p.Gly193=
ENST00000443588.1:c.522A>G	ENSP00000397785.1:p.Gly174=
ENST00000467695.5:n.288A>G
ENST00000493984.6:n.410A>G
NM_000050.4:c.579A>G	NP_000041.2:p.Gly193=
NM_054012.3:c.579A>G	NP_446464.1:p.Gly193=
XM_005272200.2:c.579A>G	XP_005272257.1:p.Gly193=
XM_011518705.1:c.693A>G	XP_011517007.1:p.Gly231=
XM_005272200.3:c.579A>G	XP_005272257.1:p.Gly193=
XM_011518705.2:c.693A>G	XP_011517007.1:p.Gly231=
XM_017014729.1:c.675A>G	XP_016870218.1:p.Gly225=
NM_054012.4:c.579A>G MANE Select	NP_446464.1:p.Gly193=