Canonical Allele Identifier: CA16041302

Gene: ASS1

Linked Data

• ClinVar Variation Id: 371254
• ClinVar RCV Id: RCV000410118 ; RCV001865271
• dbSNP Id: rs982830431
• gnomAD v4: 9-130479801-G-A
• MyVariant Identifiers: chr9:g.133355188G>A (hg19) ; chr9:g.130479801G>A (hg38)
• PubMed: PMID:25179242

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130479801G>A , CM000671.2:g.130479801G>A	GRCh38
NC_000009.11:g.133355188G>A , CM000671.1:g.133355188G>A	GRCh37
NC_000009.10:g.132345009G>A	NCBI36
NG_011542.1:g.40095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.773+1G>A MANE Select	ENSP00000253004.6:n.773+1G>A
ENST00000352480.9:c.773+1G>A	ENSP00000253004.6:n.773+1G>A
ENST00000372393.7:c.773+1G>A	ENSP00000361469.2:n.773+1G>A
ENST00000372394.5:c.773+1G>A	ENSP00000361471.1:n.773+1G>A
ENST00000467695.5:n.483G>A
ENST00000470849.4:n.498+1G>A
ENST00000492400.5:n.282+1G>A
ENST00000493984.6:n.550+1G>A
NM_000050.4:c.773+1G>A	NP_000041.2:n.773+1G>A
NM_054012.3:c.773+1G>A	NP_446464.1:n.773+1G>A
XM_005272200.2:c.773+1G>A	XP_005272257.1:n.773+1G>A
XM_011518705.1:c.887+1G>A	XP_011517007.1:n.887+1G>A
XM_005272200.3:c.773+1G>A	XP_005272257.1:n.773+1G>A
XM_011518705.2:c.887+1G>A	XP_011517007.1:n.887+1G>A
XM_017014729.1:c.869+1G>A	XP_016870218.1:n.869+1G>A
NM_054012.4:c.773+1G>A MANE Select	NP_446464.1:n.773+1G>A