Canonical Allele Identifier: CA200603573

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1522266
• ClinVar RCV Id: RCV002034332
• dbSNP Id: rs142221856
• gnomAD v3: 9-130452322-A-G
• gnomAD v4: 9-130452322-A-G
• MyVariant Identifiers: chr9:g.133327709A>G (hg19) ; chr9:g.130452322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452322A>G , CM000671.2:g.130452322A>G	GRCh38
NC_000009.11:g.133327709A>G , CM000671.1:g.133327709A>G	GRCh37
NC_000009.10:g.132317530A>G	NCBI36
NG_011542.1:g.12616A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.94A>G MANE Select	ENSP00000253004.6:p.Ile32Val
ENST00000352480.9:c.94A>G	ENSP00000253004.6:p.Ile32Val
ENST00000372393.7:c.94A>G	ENSP00000361469.2:p.Ile32Val
ENST00000372394.5:c.94A>G	ENSP00000361471.1:p.Ile32Val
ENST00000422569.5:c.94A>G	ENSP00000394212.1:p.Ile32Val
ENST00000443588.1:c.94A>G	ENSP00000397785.1:p.Ile32Val
NM_000050.4:c.94A>G	NP_000041.2:p.Ile32Val
NM_054012.3:c.94A>G	NP_446464.1:p.Ile32Val
XM_005272200.2:c.94A>G	XP_005272257.1:p.Ile32Val
XM_011518705.1:c.208A>G	XP_011517007.1:p.Ile70Val
XM_005272200.3:c.94A>G	XP_005272257.1:p.Ile32Val
XM_011518705.2:c.208A>G	XP_011517007.1:p.Ile70Val
XM_017014729.1:c.190A>G	XP_016870218.1:p.Ile64Val
NM_054012.4:c.94A>G MANE Select	NP_446464.1:p.Ile32Val