Canonical Allele Identifier: CA275932

Gene: ASS1

Linked Data

• ClinVar Variation Id: 208153
• ClinVar RCV Id: RCV000190357 ; RCV001376580
• dbSNP Id: rs777828000
• ExAC: 9:133346876 G / A
• gnomAD v2: 9-133346876-G-A
• gnomAD v3: 9-130471489-G-A
• gnomAD v4: 9-130471489-G-A
• COSMIC: COSM1193644
• MyVariant Identifiers: chr9:g.133346876G>A (hg19) ; chr9:g.130471489G>A (hg38)
• PubMed: PMID:12815590 ; PMID:19006241

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471489G>A , CM000671.2:g.130471489G>A	GRCh38
NC_000009.11:g.133346876G>A , CM000671.1:g.133346876G>A	GRCh37
NC_000009.10:g.132336697G>A	NCBI36
NG_011542.1:g.31783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.571G>A MANE Select	ENSP00000253004.6:p.Glu191Lys
ENST00000352480.9:c.571G>A	ENSP00000253004.6:p.Glu191Lys
ENST00000372393.7:c.571G>A	ENSP00000361469.2:p.Glu191Lys
ENST00000372394.5:c.571G>A	ENSP00000361471.1:p.Glu191Lys
ENST00000422569.5:c.571G>A	ENSP00000394212.1:p.Glu191Lys
ENST00000443588.1:c.514G>A	ENSP00000397785.1:p.Glu172Lys
ENST00000467695.5:n.280G>A
ENST00000493984.6:n.402G>A
NM_000050.4:c.571G>A	NP_000041.2:p.Glu191Lys
NM_054012.3:c.571G>A	NP_446464.1:p.Glu191Lys
XM_005272200.2:c.571G>A	XP_005272257.1:p.Glu191Lys
XM_011518705.1:c.685G>A	XP_011517007.1:p.Glu229Lys
XM_005272200.3:c.571G>A	XP_005272257.1:p.Glu191Lys
XM_011518705.2:c.685G>A	XP_011517007.1:p.Glu229Lys
XM_017014729.1:c.667G>A	XP_016870218.1:p.Glu223Lys
NM_054012.4:c.571G>A MANE Select	NP_446464.1:p.Glu191Lys