Canonical Allele Identifier: CA467385594

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489355-C-A
• COSMIC: COSM6182785
• MyVariant Identifiers: chr9:g.133364742C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489355C>A , CM000671.2:g.130489355C>A	GRCh38
NC_000009.11:g.133364742C>A , CM000671.1:g.133364742C>A	GRCh37
NC_000009.10:g.132354563C>A	NCBI36
NG_011542.1:g.49649C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.861C>A MANE Select	ENSP00000253004.6:p.Gly287=
ENST00000352480.9:c.861C>A	ENSP00000253004.6:p.Gly287=
ENST00000372386.6:n.132C>A
ENST00000372393.7:c.861C>A	ENSP00000361469.2:p.Gly287=
ENST00000372394.5:c.861C>A	ENSP00000361471.1:p.Gly287=
ENST00000470849.4:n.586C>A
ENST00000492400.5:n.370C>A
ENST00000493984.6:n.638C>A
NM_000050.4:c.861C>A	NP_000041.2:p.Gly287=
NM_054012.3:c.861C>A	NP_446464.1:p.Gly287=
XM_005272200.2:c.861C>A	XP_005272257.1:p.Gly287=
XM_011518705.1:c.975C>A	XP_011517007.1:p.Gly325=
XM_005272200.3:c.861C>A	XP_005272257.1:p.Gly287=
XM_011518705.2:c.975C>A	XP_011517007.1:p.Gly325=
XM_017014729.1:c.957C>A	XP_016870218.1:p.Gly319=
NM_054012.4:c.861C>A MANE Select	NP_446464.1:p.Gly287=