Canonical Allele Identifier: CA12972934

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1229182
• ClinVar RCV Id: RCV001609422
• dbSNP Id: rs543048
• gnomAD v2: 9-133364632-A-T
• gnomAD v3: 9-130489245-A-T
• gnomAD v4: 9-130489245-A-T
• MyVariant Identifiers: chr9:g.133364632A>T (hg19) ; chr9:g.133364632_133364633delinsTT (hg19) ; chr9:g.130489245A>T (hg38) ; chr9:g.130489245_130489246delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489245A>T , CM000671.2:g.130489245A>T	GRCh38
NC_000009.11:g.133364632A>T , CM000671.1:g.133364632A>T	GRCh37
NC_000009.10:g.132354453A>T	NCBI36
NG_011542.1:g.49539A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.839-88A>T MANE Select	ENSP00000253004.6:n.839-88A>T
ENST00000352480.9:c.839-88A>T	ENSP00000253004.6:n.839-88A>T
ENST00000372386.6:n.110-88A>T
ENST00000372393.7:c.839-88A>T	ENSP00000361469.2:n.839-88A>T
ENST00000372394.5:c.839-88A>T	ENSP00000361471.1:n.839-88A>T
ENST00000470849.4:n.564-88A>T
ENST00000492400.5:n.348-88A>T
ENST00000493984.6:n.616-88A>T
NM_000050.4:c.839-88A>T	NP_000041.2:n.839-88A>T
NM_054012.3:c.839-88A>T	NP_446464.1:n.839-88A>T
XM_005272200.2:c.839-88A>T	XP_005272257.1:n.839-88A>T
XM_011518705.1:c.953-88A>T	XP_011517007.1:n.953-88A>T
XM_005272200.3:c.839-88A>T	XP_005272257.1:n.839-88A>T
XM_011518705.2:c.953-88A>T	XP_011517007.1:n.953-88A>T
XM_017014729.1:c.935-88A>T	XP_016870218.1:n.935-88A>T
NM_054012.4:c.839-88A>T MANE Select	NP_446464.1:n.839-88A>T