Canonical Allele Identifier: CA266756

Gene: ASS1

Linked Data

• ClinVar Variation Id: 92375
• ClinVar RCV Id: RCV000078027 ; RCV000723467 ; RCV001290025
• dbSNP Id: rs371265106
• ExAC: 9:133355834 G / A
• gnomAD v2: 9-133355834-G-A
• gnomAD v3: 9-130480447-G-A
• gnomAD v4: 9-130480447-G-A
• MyVariant Identifiers: chr9:g.133355834G>A (hg19) ; chr9:g.130480447G>A (hg38)
• PubMed: PMID:9090528 ; PMID:16475226

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480447G>A , CM000671.2:g.130480447G>A	GRCh38
NC_000009.11:g.133355834G>A , CM000671.1:g.133355834G>A	GRCh37
NC_000009.10:g.132345655G>A	NCBI36
NG_011542.1:g.40741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.836G>A MANE Select	ENSP00000253004.6:p.Arg279Gln
ENST00000352480.9:c.836G>A	ENSP00000253004.6:p.Arg279Gln
ENST00000372386.6:n.107G>A
ENST00000372393.7:c.836G>A	ENSP00000361469.2:p.Arg279Gln
ENST00000372394.5:c.836G>A	ENSP00000361471.1:p.Arg279Gln
ENST00000470849.4:n.561G>A
ENST00000492400.5:n.345G>A
ENST00000493984.6:n.613G>A
NM_000050.4:c.836G>A	NP_000041.2:p.Arg279Gln
NM_054012.3:c.836G>A	NP_446464.1:p.Arg279Gln
XM_005272200.2:c.836G>A	XP_005272257.1:p.Arg279Gln
XM_011518705.1:c.950G>A	XP_011517007.1:p.Arg317Gln
XM_005272200.3:c.836G>A	XP_005272257.1:p.Arg279Gln
XM_011518705.2:c.950G>A	XP_011517007.1:p.Arg317Gln
XM_017014729.1:c.932G>A	XP_016870218.1:p.Arg311Gln
NM_054012.4:c.836G>A MANE Select	NP_446464.1:p.Arg279Gln