Canonical Allele Identifier: CA375230442

Gene: ASS1

Linked Data

• ClinVar Variation Id: 458675
• ClinVar RCV Id: RCV002231277
• dbSNP Id: rs754062242
• MyVariant Identifiers: chr9:g.133364720G>T (hg19) ; chr9:g.130489333G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489333G>T , CM000671.2:g.130489333G>T	GRCh38
NC_000009.11:g.133364720G>T , CM000671.1:g.133364720G>T	GRCh37
NC_000009.10:g.132354541G>T	NCBI36
NG_011542.1:g.49627G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.839G>T MANE Select	ENSP00000253004.6:p.Gly280Val
ENST00000352480.9:c.839G>T	ENSP00000253004.6:p.Gly280Val
ENST00000372386.6:n.110G>T
ENST00000372393.7:c.839G>T	ENSP00000361469.2:p.Gly280Val
ENST00000372394.5:c.839G>T	ENSP00000361471.1:p.Gly280Val
ENST00000470849.4:n.564G>T
ENST00000492400.5:n.348G>T
ENST00000493984.6:n.616G>T
NM_000050.4:c.839G>T	NP_000041.2:p.Gly280Val
NM_054012.3:c.839G>T	NP_446464.1:p.Gly280Val
XM_005272200.2:c.839G>T	XP_005272257.1:p.Gly280Val
XM_011518705.1:c.953G>T	XP_011517007.1:p.Gly318Val
XM_005272200.3:c.839G>T	XP_005272257.1:p.Gly280Val
XM_011518705.2:c.953G>T	XP_011517007.1:p.Gly318Val
XM_017014729.1:c.935G>T	XP_016870218.1:p.Gly312Val
NM_054012.4:c.839G>T MANE Select	NP_446464.1:p.Gly280Val