Canonical Allele Identifier: CA5283210

Gene: ASS1

Linked Data

• ClinVar Variation Id: 265960
• ClinVar RCV Id: RCV000256238 ; RCV001376558 ; RCV001582905
• dbSNP Id: rs575001023
• ExAC: 9:133333870 G / A
• gnomAD v2: 9-133333870-G-A
• gnomAD v3: 9-130458483-G-A
• gnomAD v4: 9-130458483-G-A
• MyVariant Identifiers: chr9:g.133333870G>A (hg19) ; chr9:g.130458483G>A (hg38)
• PubMed: PMID:12815590 ; PMID:20301631

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458483G>A , CM000671.2:g.130458483G>A	GRCh38
NC_000009.11:g.133333870G>A , CM000671.1:g.133333870G>A	GRCh37
NC_000009.10:g.132323691G>A	NCBI36
NG_011542.1:g.18777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.257G>A MANE Select	ENSP00000253004.6:p.Arg86His
ENST00000352480.9:c.257G>A	ENSP00000253004.6:p.Arg86His
ENST00000372393.7:c.257G>A	ENSP00000361469.2:p.Arg86His
ENST00000372394.5:c.257G>A	ENSP00000361471.1:p.Arg86His
ENST00000422569.5:c.257G>A	ENSP00000394212.1:p.Arg86His
ENST00000443588.1:c.257G>A	ENSP00000397785.1:p.Arg86His
NM_000050.4:c.257G>A	NP_000041.2:p.Arg86His
NM_054012.3:c.257G>A	NP_446464.1:p.Arg86His
XM_005272200.2:c.257G>A	XP_005272257.1:p.Arg86His
XM_011518705.1:c.371G>A	XP_011517007.1:p.Arg124His
XM_005272200.3:c.257G>A	XP_005272257.1:p.Arg86His
XM_011518705.2:c.371G>A	XP_011517007.1:p.Arg124His
XM_017014729.1:c.353G>A	XP_016870218.1:p.Arg118His
NM_054012.4:c.257G>A MANE Select	NP_446464.1:p.Arg86His