Canonical Allele Identifier: CA467385674

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489409-A-G
• MyVariant Identifiers: chr9:g.133364796A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489409A>G , CM000671.2:g.130489409A>G	GRCh38
NC_000009.11:g.133364796A>G , CM000671.1:g.133364796A>G	GRCh37
NC_000009.10:g.132354617A>G	NCBI36
NG_011542.1:g.49703A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.915A>G MANE Select	ENSP00000253004.6:p.Glu305=
ENST00000352480.9:c.915A>G	ENSP00000253004.6:p.Glu305=
ENST00000372386.6:n.186A>G
ENST00000372393.7:c.915A>G	ENSP00000361469.2:p.Glu305=
ENST00000372394.5:c.915A>G	ENSP00000361471.1:p.Glu305=
ENST00000470849.4:n.640A>G
ENST00000492400.5:n.424A>G
NM_000050.4:c.915A>G	NP_000041.2:p.Glu305=
NM_054012.3:c.915A>G	NP_446464.1:p.Glu305=
XM_005272200.2:c.915A>G	XP_005272257.1:p.Glu305=
XM_011518705.1:c.1029A>G	XP_011517007.1:p.Glu343=
XM_005272200.3:c.915A>G	XP_005272257.1:p.Glu305=
XM_011518705.2:c.1029A>G	XP_011517007.1:p.Glu343=
XM_017014729.1:c.1011A>G	XP_016870218.1:p.Glu337=
NM_054012.4:c.915A>G MANE Select	NP_446464.1:p.Glu305=