Canonical Allele Identifier: CA5283543

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2985898
• ClinVar RCV Id: RCV003841505
• dbSNP Id: rs367769204
• ExAC: 9:133355850 G / A
• gnomAD v2: 9-133355850-G-A
• gnomAD v3: 9-130480463-G-A
• gnomAD v4: 9-130480463-G-A
• MyVariant Identifiers: chr9:g.133355850G>A (hg19) ; chr9:g.130480463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480463G>A , CM000671.2:g.130480463G>A	GRCh38
NC_000009.11:g.133355850G>A , CM000671.1:g.133355850G>A	GRCh37
NC_000009.10:g.132345671G>A	NCBI36
NG_011542.1:g.40757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+14G>A MANE Select	ENSP00000253004.6:n.838+14G>A
ENST00000352480.9:c.838+14G>A	ENSP00000253004.6:n.838+14G>A
ENST00000372386.6:n.109+14G>A
ENST00000372393.7:c.838+14G>A	ENSP00000361469.2:n.838+14G>A
ENST00000372394.5:c.838+14G>A	ENSP00000361471.1:n.838+14G>A
ENST00000470849.4:n.563+14G>A
ENST00000492400.5:n.347+14G>A
ENST00000493984.6:n.615+14G>A
NM_000050.4:c.838+14G>A	NP_000041.2:n.838+14G>A
NM_054012.3:c.838+14G>A	NP_446464.1:n.838+14G>A
XM_005272200.2:c.838+14G>A	XP_005272257.1:n.838+14G>A
XM_011518705.1:c.952+14G>A	XP_011517007.1:n.952+14G>A
XM_005272200.3:c.838+14G>A	XP_005272257.1:n.838+14G>A
XM_011518705.2:c.952+14G>A	XP_011517007.1:n.952+14G>A
XM_017014729.1:c.934+14G>A	XP_016870218.1:n.934+14G>A
NM_054012.4:c.838+14G>A MANE Select	NP_446464.1:n.838+14G>A