Canonical Allele Identifier: CA5283585

Gene: ASS1

Linked Data

• ClinVar Variation Id: 265962
• ClinVar RCV Id: RCV000256325 ; RCV001376552 ; RCV002252073 ; RCV003324739
• dbSNP Id: rs372128852
• ExAC: 9:133364856 G / A
• gnomAD v2: 9-133364856-G-A
• gnomAD v3: 9-130489469-G-A
• gnomAD v4: 9-130489469-G-A
• MyVariant Identifiers: chr9:g.133364856G>A (hg19) ; chr9:g.130489469G>A (hg38)
• PubMed: PMID:20301631

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489469G>A , CM000671.2:g.130489469G>A	GRCh38
NC_000009.11:g.133364856G>A , CM000671.1:g.133364856G>A	GRCh37
NC_000009.10:g.132354677G>A	NCBI36
NG_011542.1:g.49763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+5G>A MANE Select	ENSP00000253004.6:n.970+5G>A
ENST00000352480.9:c.970+5G>A	ENSP00000253004.6:n.970+5G>A
ENST00000372386.6:n.241+5G>A
ENST00000372393.7:c.970+5G>A	ENSP00000361469.2:n.970+5G>A
ENST00000372394.5:c.970+5G>A	ENSP00000361471.1:n.970+5G>A
NM_000050.4:c.970+5G>A	NP_000041.2:n.970+5G>A
NM_054012.3:c.970+5G>A	NP_446464.1:n.970+5G>A
XM_005272200.2:c.970+5G>A	XP_005272257.1:n.970+5G>A
XM_011518705.1:c.1084+5G>A	XP_011517007.1:n.1084+5G>A
XM_005272200.3:c.970+5G>A	XP_005272257.1:n.970+5G>A
XM_011518705.2:c.1084+5G>A	XP_011517007.1:n.1084+5G>A
XM_017014729.1:c.1066+5G>A	XP_016870218.1:n.1066+5G>A
NM_054012.4:c.970+5G>A MANE Select	NP_446464.1:n.970+5G>A