Canonical Allele Identifier: CA467385631

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2082359
• ClinVar RCV Id: RCV002995951
• MyVariant Identifiers: chr9:g.133364772C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489385C>A , CM000671.2:g.130489385C>A	GRCh38
NC_000009.11:g.133364772C>A , CM000671.1:g.133364772C>A	GRCh37
NC_000009.10:g.132354593C>A	NCBI36
NG_011542.1:g.49679C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.891C>A MANE Select	ENSP00000253004.6:p.Ile297=
ENST00000352480.9:c.891C>A	ENSP00000253004.6:p.Ile297=
ENST00000372386.6:n.162C>A
ENST00000372393.7:c.891C>A	ENSP00000361469.2:p.Ile297=
ENST00000372394.5:c.891C>A	ENSP00000361471.1:p.Ile297=
ENST00000470849.4:n.616C>A
ENST00000492400.5:n.400C>A
ENST00000493984.6:n.668C>A
NM_000050.4:c.891C>A	NP_000041.2:p.Ile297=
NM_054012.3:c.891C>A	NP_446464.1:p.Ile297=
XM_005272200.2:c.891C>A	XP_005272257.1:p.Ile297=
XM_011518705.1:c.1005C>A	XP_011517007.1:p.Ile335=
XM_005272200.3:c.891C>A	XP_005272257.1:p.Ile297=
XM_011518705.2:c.1005C>A	XP_011517007.1:p.Ile335=
XM_017014729.1:c.987C>A	XP_016870218.1:p.Ile329=
NM_054012.4:c.891C>A MANE Select	NP_446464.1:p.Ile297=