Canonical Allele Identifier: CA467384757

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2852349
• ClinVar RCV Id: RCV003758644
• gnomAD v4: 9-130479720-C-T
• MyVariant Identifiers: chr9:g.133355107C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130479720C>T , CM000671.2:g.130479720C>T	GRCh38
NC_000009.11:g.133355107C>T , CM000671.1:g.133355107C>T	GRCh37
NC_000009.10:g.132344928C>T	NCBI36
NG_011542.1:g.40014C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.693C>T MANE Select	ENSP00000253004.6:p.Val231=
ENST00000352480.9:c.693C>T	ENSP00000253004.6:p.Val231=
ENST00000372393.7:c.693C>T	ENSP00000361469.2:p.Val231=
ENST00000372394.5:c.693C>T	ENSP00000361471.1:p.Val231=
ENST00000467695.5:n.402C>T
ENST00000470849.4:n.418C>T
ENST00000492400.5:n.202C>T
ENST00000493984.6:n.513-43C>T
NM_000050.4:c.693C>T	NP_000041.2:p.Val231=
NM_054012.3:c.693C>T	NP_446464.1:p.Val231=
XM_005272200.2:c.693C>T	XP_005272257.1:p.Val231=
XM_011518705.1:c.807C>T	XP_011517007.1:p.Val269=
XM_005272200.3:c.693C>T	XP_005272257.1:p.Val231=
XM_011518705.2:c.807C>T	XP_011517007.1:p.Val269=
XM_017014729.1:c.789C>T	XP_016870218.1:p.Val263=
NM_054012.4:c.693C>T MANE Select	NP_446464.1:p.Val231=