Canonical Allele Identifier: CA375229492

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2501087
• ClinVar RCV Id: RCV003226684 ; RCV003459808
• dbSNP Id: rs768215008
• gnomAD v2: 9-133355813-G-A
• gnomAD v3: 9-130480426-G-A
• gnomAD v4: 9-130480426-G-A
• MyVariant Identifiers: chr9:g.133355813G>A (hg19) ; chr9:g.130480426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480426G>A , CM000671.2:g.130480426G>A	GRCh38
NC_000009.11:g.133355813G>A , CM000671.1:g.133355813G>A	GRCh37
NC_000009.10:g.132345634G>A	NCBI36
NG_011542.1:g.40720G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.815G>A MANE Select	ENSP00000253004.6:p.Arg272His
ENST00000352480.9:c.815G>A	ENSP00000253004.6:p.Arg272His
ENST00000372386.6:n.86G>A
ENST00000372393.7:c.815G>A	ENSP00000361469.2:p.Arg272His
ENST00000372394.5:c.815G>A	ENSP00000361471.1:p.Arg272His
ENST00000470849.4:n.540G>A
ENST00000492400.5:n.324G>A
ENST00000493984.6:n.592G>A
NM_000050.4:c.815G>A	NP_000041.2:p.Arg272His
NM_054012.3:c.815G>A	NP_446464.1:p.Arg272His
XM_005272200.2:c.815G>A	XP_005272257.1:p.Arg272His
XM_011518705.1:c.929G>A	XP_011517007.1:p.Arg310His
XM_005272200.3:c.815G>A	XP_005272257.1:p.Arg272His
XM_011518705.2:c.929G>A	XP_011517007.1:p.Arg310His
XM_017014729.1:c.911G>A	XP_016870218.1:p.Arg304His
NM_054012.4:c.815G>A MANE Select	NP_446464.1:p.Arg272His