Canonical Allele Identifier: CA5283562
Gene: ASS1 HGNC NCBI
ClinVar RCV:
RCV000493705
RCV000672066
RCV001290024
ClinVar Variation:
430139
dbSNP:
765338121
gnomAD v2:
9:133364728 G / A
gnomAD v3:
9:130489341 G / A
gnomAD v4:
chr9-130489341-G-A
Joint Max Group AF 0.00005302 (AFR)
Genomes Max Group AF 0.00003269 (AFR)
Exomes Max Group AF 0.00003983 (AFR)
MyVariant.info:
GRCh38 chr9:g.130489341G>A
GRCh37 chr9:g.133364728G>A
Revel Score:
ENST00000334909 0.967
ENST00000352480 (MANE Select) 0.967
ENST00000372394 0.967
ENST00000372393 0.967
ENST00000372386 0.967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489341G>A , CM000671.2:g.130489341G>A GRCh38
NC_000009.11:g.133364728G>A , CM000671.1:g.133364728G>A GRCh37
NC_000009.10:g.132354549G>A NCBI36
NG_011542.1:g.49635G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.847G>A MANE Select ENSP00000253004.6:p.Glu283Lys
ENST00000352480.9:c.847G>A ENSP00000253004.6:p.Glu283Lys
ENST00000372386.6:n.118G>A
ENST00000372393.7:c.847G>A ENSP00000361469.2:p.Glu283Lys
ENST00000372394.5:c.847G>A ENSP00000361471.1:p.Glu283Lys
ENST00000470849.4:n.572G>A
ENST00000492400.5:n.356G>A
ENST00000493984.6:n.624G>A
NM_000050.4:c.847G>A NP_000041.2:p.Glu283Lys
NM_054012.3:c.847G>A NP_446464.1:p.Glu283Lys
XM_005272200.2:c.847G>A XP_005272257.1:p.Glu283Lys
XM_011518705.1:c.961G>A XP_011517007.1:p.Glu321Lys
XM_005272200.3:c.847G>A XP_005272257.1:p.Glu283Lys
XM_011518705.2:c.961G>A XP_011517007.1:p.Glu321Lys
XM_017014729.1:c.943G>A XP_016870218.1:p.Glu315Lys
NM_054012.4:c.847G>A MANE Select NP_446464.1:p.Glu283Lys
Search 100 bp 5'
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