Canonical Allele Identifier: CA375230882

Gene: ASS1

Linked Data

• ClinVar Variation Id: 558145
• ClinVar RCV Id: RCV000674371
• dbSNP Id: rs1396766124
• gnomAD v2: 9-133364852-G-A
• gnomAD v4: 9-130489465-G-A
• MyVariant Identifiers: chr9:g.133364852G>A (hg19) ; chr9:g.130489465G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489465G>A , CM000671.2:g.130489465G>A	GRCh38
NC_000009.11:g.133364852G>A , CM000671.1:g.133364852G>A	GRCh37
NC_000009.10:g.132354673G>A	NCBI36
NG_011542.1:g.49759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+1G>A MANE Select	ENSP00000253004.6:n.970+1G>A
ENST00000352480.9:c.970+1G>A	ENSP00000253004.6:n.970+1G>A
ENST00000372386.6:n.241+1G>A
ENST00000372393.7:c.970+1G>A	ENSP00000361469.2:n.970+1G>A
ENST00000372394.5:c.970+1G>A	ENSP00000361471.1:n.970+1G>A
NM_000050.4:c.970+1G>A	NP_000041.2:n.970+1G>A
NM_054012.3:c.970+1G>A	NP_446464.1:n.970+1G>A
XM_005272200.2:c.970+1G>A	XP_005272257.1:n.970+1G>A
XM_011518705.1:c.1084+1G>A	XP_011517007.1:n.1084+1G>A
XM_005272200.3:c.970+1G>A	XP_005272257.1:n.970+1G>A
XM_011518705.2:c.1084+1G>A	XP_011517007.1:n.1084+1G>A
XM_017014729.1:c.1066+1G>A	XP_016870218.1:n.1066+1G>A
NM_054012.4:c.970+1G>A MANE Select	NP_446464.1:n.970+1G>A