Canonical Allele Identifier: CA5283170

Gene: ASS1

Linked Data

• ClinVar Variation Id: 365250
• ClinVar RCV Id: RCV000343497 ; RCV000616413 ; RCV002523738 ; RCV002523739
• dbSNP Id: rs368133957
• ExAC: 9:133329764 C / A
• gnomAD v2: 9-133329764-C-A
• gnomAD v3: 9-130454377-C-A
• gnomAD v4: 9-130454377-C-A
• MyVariant Identifiers: chr9:g.133329764C>A (hg19) ; chr9:g.130454377C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130454377C>A , CM000671.2:g.130454377C>A	GRCh38
NC_000009.11:g.133329764C>A , CM000671.1:g.133329764C>A	GRCh37
NC_000009.10:g.132319585C>A	NCBI36
NG_011542.1:g.14671C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.174+4C>A MANE Select	ENSP00000253004.6:n.174+4C>A
ENST00000352480.9:c.174+4C>A	ENSP00000253004.6:n.174+4C>A
ENST00000372393.7:c.174+4C>A	ENSP00000361469.2:n.174+4C>A
ENST00000372394.5:c.174+4C>A	ENSP00000361471.1:n.174+4C>A
ENST00000422569.5:c.174+4C>A	ENSP00000394212.1:n.174+4C>A
ENST00000443588.1:c.174+4C>A	ENSP00000397785.1:n.174+4C>A
NM_000050.4:c.174+4C>A	NP_000041.2:n.174+4C>A
NM_054012.3:c.174+4C>A	NP_446464.1:n.174+4C>A
XM_005272200.2:c.174+4C>A	XP_005272257.1:n.174+4C>A
XM_011518705.1:c.288+4C>A	XP_011517007.1:n.288+4C>A
XM_005272200.3:c.174+4C>A	XP_005272257.1:n.174+4C>A
XM_011518705.2:c.288+4C>A	XP_011517007.1:n.288+4C>A
XM_017014729.1:c.270+4C>A	XP_016870218.1:n.270+4C>A
NM_054012.4:c.174+4C>A MANE Select	NP_446464.1:n.174+4C>A