Canonical Allele Identifier: CA233493

Gene: ASS1

Linked Data

• ClinVar Variation Id: 166703
• ClinVar RCV Id: RCV000152807 ; RCV000672058
• dbSNP Id: rs727503813
• gnomAD v4: 9-130489455-G-A
• MyVariant Identifiers: chr9:g.133364842G>A (hg19) ; chr9:g.130489455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489455G>A , CM000671.2:g.130489455G>A	GRCh38
NC_000009.11:g.133364842G>A , CM000671.1:g.133364842G>A	GRCh37
NC_000009.10:g.132354663G>A	NCBI36
NG_011542.1:g.49749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.961G>A MANE Select	ENSP00000253004.6:p.Val321Met
ENST00000352480.9:c.961G>A	ENSP00000253004.6:p.Val321Met
ENST00000372386.6:n.232G>A
ENST00000372393.7:c.961G>A	ENSP00000361469.2:p.Val321Met
ENST00000372394.5:c.961G>A	ENSP00000361471.1:p.Val321Met
NM_000050.4:c.961G>A	NP_000041.2:p.Val321Met
NM_054012.3:c.961G>A	NP_446464.1:p.Val321Met
XM_005272200.2:c.961G>A	XP_005272257.1:p.Val321Met
XM_011518705.1:c.1075G>A	XP_011517007.1:p.Val359Met
XM_005272200.3:c.961G>A	XP_005272257.1:p.Val321Met
XM_011518705.2:c.1075G>A	XP_011517007.1:p.Val359Met
XM_017014729.1:c.1057G>A	XP_016870218.1:p.Val353Met
NM_054012.4:c.961G>A MANE Select	NP_446464.1:p.Val321Met