Canonical Allele Identifier: CA200588295

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1224863
• ClinVar RCV Id: RCV001608321
• dbSNP Id: rs45599031
• gnomAD v2: 9-133364643-T-G
• gnomAD v3: 9-130489256-T-G
• gnomAD v4: 9-130489256-T-G
• MyVariant Identifiers: chr9:g.133364643T>G (hg19) ; chr9:g.133364643_133364647delinsGGTCA (hg19) ; chr9:g.130489256T>G (hg38) ; chr9:g.130489256_130489260delinsGGTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489256T>G , CM000671.2:g.130489256T>G	GRCh38
NC_000009.11:g.133364643T>G , CM000671.1:g.133364643T>G	GRCh37
NC_000009.10:g.132354464T>G	NCBI36
NG_011542.1:g.49550T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.839-77T>G MANE Select	ENSP00000253004.6:n.839-77T>G
ENST00000352480.9:c.839-77T>G	ENSP00000253004.6:n.839-77T>G
ENST00000372386.6:n.110-77T>G
ENST00000372393.7:c.839-77T>G	ENSP00000361469.2:n.839-77T>G
ENST00000372394.5:c.839-77T>G	ENSP00000361471.1:n.839-77T>G
ENST00000470849.4:n.564-77T>G
ENST00000492400.5:n.348-77T>G
ENST00000493984.6:n.616-77T>G
NM_000050.4:c.839-77T>G	NP_000041.2:n.839-77T>G
NM_054012.3:c.839-77T>G	NP_446464.1:n.839-77T>G
XM_005272200.2:c.839-77T>G	XP_005272257.1:n.839-77T>G
XM_011518705.1:c.953-77T>G	XP_011517007.1:n.953-77T>G
XM_005272200.3:c.839-77T>G	XP_005272257.1:n.839-77T>G
XM_011518705.2:c.953-77T>G	XP_011517007.1:n.953-77T>G
XM_017014729.1:c.935-77T>G	XP_016870218.1:n.935-77T>G
NM_054012.4:c.839-77T>G MANE Select	NP_446464.1:n.839-77T>G