Canonical Allele Identifier: CA253834

Gene: ASS1

Linked Data

• ClinVar Variation Id: 6329
• ClinVar RCV Id: RCV000006701 ; RCV000185789 ; RCV001376575 ; RCV002512846
• dbSNP Id: rs121908641
• ExAC: 9:133374932 G / A
• gnomAD v2: 9-133374932-G-A
• gnomAD v3: 9-130499545-G-A
• gnomAD v4: 9-130499545-G-A
• MyVariant Identifiers: chr9:g.133374932G>A (hg19) ; chr9:g.130499545G>A (hg38)
• PubMed: PMID:7557970 ; PMID:11941481 ; PMID:12815590 ; PMID:16475226 ; PMID:18473344 ; PMID:19006241 ; PMID:20301631 ; PMID:23891399 ; PMID:25433810

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130499545G>A , CM000671.2:g.130499545G>A	GRCh38
NC_000009.11:g.133374932G>A , CM000671.1:g.133374932G>A	GRCh37
NC_000009.10:g.132364753G>A	NCBI36
NG_011542.1:g.59839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.1168G>A MANE Select	ENSP00000253004.6:p.Gly390Arg
ENST00000352480.9:c.1168G>A	ENSP00000253004.6:p.Gly390Arg
ENST00000372386.6:n.439G>A
ENST00000372393.7:c.1168G>A	ENSP00000361469.2:p.Gly390Arg
ENST00000372394.5:c.1168G>A	ENSP00000361471.1:p.Gly390Arg
NM_000050.4:c.1168G>A	NP_000041.2:p.Gly390Arg
NM_054012.3:c.1168G>A	NP_446464.1:p.Gly390Arg
XM_005272200.2:c.1168G>A	XP_005272257.1:p.Gly390Arg
XM_011518705.1:c.1282G>A	XP_011517007.1:p.Gly428Arg
XR_930393.1:n.1059+402C>T
XM_005272200.3:c.1168G>A	XP_005272257.1:p.Gly390Arg
XM_011518705.2:c.1282G>A	XP_011517007.1:p.Gly428Arg
XM_017014729.1:c.1264G>A	XP_016870218.1:p.Gly422Arg
XR_930393.2:n.1101+402C>T
NM_054012.4:c.1168G>A MANE Select	NP_446464.1:p.Gly390Arg