Canonical Allele Identifier: CA5283568

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2140714
• ClinVar RCV Id: RCV003056590
• dbSNP Id: rs768394647
• ExAC: 9:133364777 C / A
• gnomAD v2: 9-133364777-C-A
• gnomAD v3: 9-130489390-C-A
• gnomAD v4: 9-130489390-C-A
• MyVariant Identifiers: chr9:g.133364777C>A (hg19) ; chr9:g.130489390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489390C>A , CM000671.2:g.130489390C>A	GRCh38
NC_000009.11:g.133364777C>A , CM000671.1:g.133364777C>A	GRCh37
NC_000009.10:g.132354598C>A	NCBI36
NG_011542.1:g.49684C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.896C>A MANE Select	ENSP00000253004.6:p.Ala299Asp
ENST00000352480.9:c.896C>A	ENSP00000253004.6:p.Ala299Asp
ENST00000372386.6:n.167C>A
ENST00000372393.7:c.896C>A	ENSP00000361469.2:p.Ala299Asp
ENST00000372394.5:c.896C>A	ENSP00000361471.1:p.Ala299Asp
ENST00000470849.4:n.621C>A
ENST00000492400.5:n.405C>A
ENST00000493984.6:n.673C>A
NM_000050.4:c.896C>A	NP_000041.2:p.Ala299Asp
NM_054012.3:c.896C>A	NP_446464.1:p.Ala299Asp
XM_005272200.2:c.896C>A	XP_005272257.1:p.Ala299Asp
XM_011518705.1:c.1010C>A	XP_011517007.1:p.Ala337Asp
XM_005272200.3:c.896C>A	XP_005272257.1:p.Ala299Asp
XM_011518705.2:c.1010C>A	XP_011517007.1:p.Ala337Asp
XM_017014729.1:c.992C>A	XP_016870218.1:p.Ala331Asp
NM_054012.4:c.896C>A MANE Select	NP_446464.1:p.Ala299Asp