Canonical Allele Identifier: CA375224758

Gene: ASS1

Linked Data

• ClinVar Variation Id: 3062249
• ClinVar RCV Id: RCV003985971
• dbSNP Id: rs1321267678
• gnomAD v2: 9-133333786-A-G
• gnomAD v4: 9-130458399-A-G
• MyVariant Identifiers: chr9:g.133333786A>G (hg19) ; chr9:g.130458399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458399A>G , CM000671.2:g.130458399A>G	GRCh38
NC_000009.11:g.133333786A>G , CM000671.1:g.133333786A>G	GRCh37
NC_000009.10:g.132323607A>G	NCBI36
NG_011542.1:g.18693A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.175-2A>G MANE Select	ENSP00000253004.6:n.175-2A>G
ENST00000352480.9:c.175-2A>G	ENSP00000253004.6:n.175-2A>G
ENST00000372393.7:c.175-2A>G	ENSP00000361469.2:n.175-2A>G
ENST00000372394.5:c.175-2A>G	ENSP00000361471.1:n.175-2A>G
ENST00000422569.5:c.175-2A>G	ENSP00000394212.1:n.175-2A>G
ENST00000443588.1:c.175-2A>G	ENSP00000397785.1:n.175-2A>G
NM_000050.4:c.175-2A>G	NP_000041.2:n.175-2A>G
NM_054012.3:c.175-2A>G	NP_446464.1:n.175-2A>G
XM_005272200.2:c.175-2A>G	XP_005272257.1:n.175-2A>G
XM_011518705.1:c.289-2A>G	XP_011517007.1:n.289-2A>G
XM_005272200.3:c.175-2A>G	XP_005272257.1:n.175-2A>G
XM_011518705.2:c.289-2A>G	XP_011517007.1:n.289-2A>G
XM_017014729.1:c.271-2A>G	XP_016870218.1:n.271-2A>G
NM_054012.4:c.175-2A>G MANE Select	NP_446464.1:n.175-2A>G