Canonical Allele Identifier: CA266753

Gene: ASS1

Linked Data

• ClinVar Variation Id: 92372
• ClinVar RCV Id: RCV000078024 ; RCV000185783 ; RCV001376591
• dbSNP Id: rs192838388
• ExAC: 9:133355785 G / A
• gnomAD v2: 9-133355785-G-A
• gnomAD v3: 9-130480398-G-A
• gnomAD v4: 9-130480398-G-A
• MyVariant Identifiers: chr9:g.133355785G>A (hg19) ; chr9:g.130480398G>A (hg38)
• PubMed: PMID:14680976 ; PMID:18473344 ; PMID:18925679 ; PMID:20301631 ; PMID:21244552 ; PMID:22473243 ; PMID:23780642 ; PMID:25047749 ; PMID:28111830

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480398G>A , CM000671.2:g.130480398G>A	GRCh38
NC_000009.11:g.133355785G>A , CM000671.1:g.133355785G>A	GRCh37
NC_000009.10:g.132345606G>A	NCBI36
NG_011542.1:g.40692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.787G>A MANE Select	ENSP00000253004.6:p.Val263Met
ENST00000352480.9:c.787G>A	ENSP00000253004.6:p.Val263Met
ENST00000372386.6:n.58G>A
ENST00000372393.7:c.787G>A	ENSP00000361469.2:p.Val263Met
ENST00000372394.5:c.787G>A	ENSP00000361471.1:p.Val263Met
ENST00000470849.4:n.512G>A
ENST00000492400.5:n.296G>A
ENST00000493984.6:n.564G>A
NM_000050.4:c.787G>A	NP_000041.2:p.Val263Met
NM_054012.3:c.787G>A	NP_446464.1:p.Val263Met
XM_005272200.2:c.787G>A	XP_005272257.1:p.Val263Met
XM_011518705.1:c.901G>A	XP_011517007.1:p.Val301Met
XM_005272200.3:c.787G>A	XP_005272257.1:p.Val263Met
XM_011518705.2:c.901G>A	XP_011517007.1:p.Val301Met
XM_017014729.1:c.883G>A	XP_016870218.1:p.Val295Met
NM_054012.4:c.787G>A MANE Select	NP_446464.1:p.Val263Met