Canonical Allele Identifier: CA5283571

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1089112
• ClinVar RCV Id: RCV001407838
• dbSNP Id: rs773089581
• ExAC: 9:133364799 G / A
• gnomAD v2: 9-133364799-G-A
• gnomAD v4: 9-130489412-G-A
• MyVariant Identifiers: chr9:g.133364799G>A (hg19) ; chr9:g.130489412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489412G>A , CM000671.2:g.130489412G>A	GRCh38
NC_000009.11:g.133364799G>A , CM000671.1:g.133364799G>A	GRCh37
NC_000009.10:g.132354620G>A	NCBI36
NG_011542.1:g.49706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.918G>A MANE Select	ENSP00000253004.6:p.Val306=
ENST00000352480.9:c.918G>A	ENSP00000253004.6:p.Val306=
ENST00000372386.6:n.189G>A
ENST00000372393.7:c.918G>A	ENSP00000361469.2:p.Val306=
ENST00000372394.5:c.918G>A	ENSP00000361471.1:p.Val306=
ENST00000470849.4:n.643G>A
ENST00000492400.5:n.427G>A
NM_000050.4:c.918G>A	NP_000041.2:p.Val306=
NM_054012.3:c.918G>A	NP_446464.1:p.Val306=
XM_005272200.2:c.918G>A	XP_005272257.1:p.Val306=
XM_011518705.1:c.1032G>A	XP_011517007.1:p.Val344=
XM_005272200.3:c.918G>A	XP_005272257.1:p.Val306=
XM_011518705.2:c.1032G>A	XP_011517007.1:p.Val344=
XM_017014729.1:c.1014G>A	XP_016870218.1:p.Val338=
NM_054012.4:c.918G>A MANE Select	NP_446464.1:p.Val306=