Canonical Allele Identifier: CA5283575

Gene: ASS1

Linked Data

• ClinVar Variation Id: 365260
• ClinVar RCV Id: RCV000286574 ; RCV000413247 ; RCV000506573 ; RCV001376638
• dbSNP Id: rs199751308
• ExAC: 9:133364810 A / G
• gnomAD v2: 9-133364810-A-G
• gnomAD v3: 9-130489423-A-G
• gnomAD v4: 9-130489423-A-G
• MyVariant Identifiers: chr9:g.133364810A>G (hg19) ; chr9:g.130489423A>G (hg38)
• PubMed: PMID:12815590 ; PMID:15863597

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489423A>G , CM000671.2:g.130489423A>G	GRCh38
NC_000009.11:g.133364810A>G , CM000671.1:g.133364810A>G	GRCh37
NC_000009.10:g.132354631A>G	NCBI36
NG_011542.1:g.49717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.929A>G MANE Select	ENSP00000253004.6:p.Lys310Arg
ENST00000352480.9:c.929A>G	ENSP00000253004.6:p.Lys310Arg
ENST00000372386.6:n.200A>G
ENST00000372393.7:c.929A>G	ENSP00000361469.2:p.Lys310Arg
ENST00000372394.5:c.929A>G	ENSP00000361471.1:p.Lys310Arg
ENST00000492400.5:n.438A>G
NM_000050.4:c.929A>G	NP_000041.2:p.Lys310Arg
NM_054012.3:c.929A>G	NP_446464.1:p.Lys310Arg
XM_005272200.2:c.929A>G	XP_005272257.1:p.Lys310Arg
XM_011518705.1:c.1043A>G	XP_011517007.1:p.Lys348Arg
XM_005272200.3:c.929A>G	XP_005272257.1:p.Lys310Arg
XM_011518705.2:c.1043A>G	XP_011517007.1:p.Lys348Arg
XM_017014729.1:c.1025A>G	XP_016870218.1:p.Lys342Arg
NM_054012.4:c.929A>G MANE Select	NP_446464.1:p.Lys310Arg