Canonical Allele Identifier: CA200608041

Gene: ASS1

Linked Data

• ClinVar Variation Id: 426661
• ClinVar RCV Id: RCV000489131 ; RCV000527150 ; RCV001376543
• dbSNP Id: rs895822620
• gnomAD v2: 9-133333875-C-A
• gnomAD v4: 9-130458488-C-A
• MyVariant Identifiers: chr9:g.133333875C>A (hg19) ; chr9:g.130458488C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458488C>A , CM000671.2:g.130458488C>A	GRCh38
NC_000009.11:g.133333875C>A , CM000671.1:g.133333875C>A	GRCh37
NC_000009.10:g.132323696C>A	NCBI36
NG_011542.1:g.18782C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.262C>A MANE Select	ENSP00000253004.6:p.Leu88Ile
ENST00000352480.9:c.262C>A	ENSP00000253004.6:p.Leu88Ile
ENST00000372393.7:c.262C>A	ENSP00000361469.2:p.Leu88Ile
ENST00000372394.5:c.262C>A	ENSP00000361471.1:p.Leu88Ile
ENST00000422569.5:c.262C>A	ENSP00000394212.1:p.Leu88Ile
ENST00000443588.1:c.262C>A	ENSP00000397785.1:p.Leu88Ile
NM_000050.4:c.262C>A	NP_000041.2:p.Leu88Ile
NM_054012.3:c.262C>A	NP_446464.1:p.Leu88Ile
XM_005272200.2:c.262C>A	XP_005272257.1:p.Leu88Ile
XM_011518705.1:c.376C>A	XP_011517007.1:p.Leu126Ile
XM_005272200.3:c.262C>A	XP_005272257.1:p.Leu88Ile
XM_011518705.2:c.376C>A	XP_011517007.1:p.Leu126Ile
XM_017014729.1:c.358C>A	XP_016870218.1:p.Leu120Ile
NM_054012.4:c.262C>A MANE Select	NP_446464.1:p.Leu88Ile