Canonical Allele Identifier: CA312352

Gene: ASS1

Linked Data

• ClinVar Variation Id: 203631
• ClinVar RCV Id: RCV000185788 ; RCV000633525 ; RCV002500568
• dbSNP Id: rs771937610
• ExAC: 9:133370371 G / A
• gnomAD v2: 9-133370371-G-A
• gnomAD v3: 9-130494984-G-A
• gnomAD v4: 9-130494984-G-A
• COSMIC: COSM462438
• MyVariant Identifiers: chr9:g.133370371G>A (hg19) ; chr9:g.130494984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130494984G>A , CM000671.2:g.130494984G>A	GRCh38
NC_000009.11:g.133370371G>A , CM000671.1:g.133370371G>A	GRCh37
NC_000009.10:g.132360192G>A	NCBI36
NG_011542.1:g.55278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.1088G>A MANE Select	ENSP00000253004.6:p.Arg363Gln
ENST00000352480.9:c.1088G>A	ENSP00000253004.6:p.Arg363Gln
ENST00000372386.6:n.359G>A
ENST00000372393.7:c.1088G>A	ENSP00000361469.2:p.Arg363Gln
ENST00000372394.5:c.1088G>A	ENSP00000361471.1:p.Arg363Gln
NM_000050.4:c.1088G>A	NP_000041.2:p.Arg363Gln
NM_054012.3:c.1088G>A	NP_446464.1:p.Arg363Gln
XM_005272200.2:c.1088G>A	XP_005272257.1:p.Arg363Gln
XM_011518705.1:c.1202G>A	XP_011517007.1:p.Arg401Gln
XR_930393.1:n.1060-2727C>T
XM_005272200.3:c.1088G>A	XP_005272257.1:p.Arg363Gln
XM_011518705.2:c.1202G>A	XP_011517007.1:p.Arg401Gln
XM_017014729.1:c.1184G>A	XP_016870218.1:p.Arg395Gln
XR_930393.2:n.1102-2727C>T
NM_054012.4:c.1088G>A MANE Select	NP_446464.1:p.Arg363Gln