Canonical Allele Identifier: CA5283564

Gene: ASS1

Linked Data

• ClinVar Variation Id: 365259
• ClinVar RCV Id: RCV000317562 ; RCV001450074
• dbSNP Id: rs201905628
• ExAC: 9:133364739 A / T
• gnomAD v2: 9-133364739-A-T
• gnomAD v3: 9-130489352-A-T
• gnomAD v4: 9-130489352-A-T
• MyVariant Identifiers: chr9:g.133364739A>T (hg19) ; chr9:g.130489352A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489352A>T , CM000671.2:g.130489352A>T	GRCh38
NC_000009.11:g.133364739A>T , CM000671.1:g.133364739A>T	GRCh37
NC_000009.10:g.132354560A>T	NCBI36
NG_011542.1:g.49646A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.858A>T MANE Select	ENSP00000253004.6:p.Ala286=
ENST00000352480.9:c.858A>T	ENSP00000253004.6:p.Ala286=
ENST00000372386.6:n.129A>T
ENST00000372393.7:c.858A>T	ENSP00000361469.2:p.Ala286=
ENST00000372394.5:c.858A>T	ENSP00000361471.1:p.Ala286=
ENST00000470849.4:n.583A>T
ENST00000492400.5:n.367A>T
ENST00000493984.6:n.635A>T
NM_000050.4:c.858A>T	NP_000041.2:p.Ala286=
NM_054012.3:c.858A>T	NP_446464.1:p.Ala286=
XM_005272200.2:c.858A>T	XP_005272257.1:p.Ala286=
XM_011518705.1:c.972A>T	XP_011517007.1:p.Ala324=
XM_005272200.3:c.858A>T	XP_005272257.1:p.Ala286=
XM_011518705.2:c.972A>T	XP_011517007.1:p.Ala324=
XM_017014729.1:c.954A>T	XP_016870218.1:p.Ala318=
NM_054012.4:c.858A>T MANE Select	NP_446464.1:p.Ala286=