Canonical Allele Identifier: CA5283210
Gene: ASS1 HGNC NCBI
ClinVar RCV:
RCV000256238
RCV001376558
RCV001582905
ClinVar Variation:
265960
dbSNP:
575001023
gnomAD v2:
9:133333870 G / A
gnomAD v3:
9:130458483 G / A
gnomAD v4:
chr9-130458483-G-A
Joint Max Group AF 0.00000876 (SAS)
Exomes Max Group AF 0.00000925 (SAS)
MyVariant.info:
GRCh38 chr9:g.130458483G>A
GRCh37 chr9:g.133333870G>A
Revel Score:
ENST00000334909 0.797
ENST00000352480 (MANE Select) 0.797
ENST00000372394 0.797
ENST00000372393 0.797
ENST00000422569 0.797
ENST00000443588 0.797
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130458483G>A , CM000671.2:g.130458483G>A GRCh38
NC_000009.11:g.133333870G>A , CM000671.1:g.133333870G>A GRCh37
NC_000009.10:g.132323691G>A NCBI36
NG_011542.1:g.18777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.257G>A MANE Select ENSP00000253004.6:p.Arg86His
ENST00000352480.9:c.257G>A ENSP00000253004.6:p.Arg86His
ENST00000372393.7:c.257G>A ENSP00000361469.2:p.Arg86His
ENST00000372394.5:c.257G>A ENSP00000361471.1:p.Arg86His
ENST00000422569.5:c.257G>A ENSP00000394212.1:p.Arg86His
ENST00000443588.1:c.257G>A ENSP00000397785.1:p.Arg86His
NM_000050.4:c.257G>A NP_000041.2:p.Arg86His
NM_054012.3:c.257G>A NP_446464.1:p.Arg86His
XM_005272200.2:c.257G>A XP_005272257.1:p.Arg86His
XM_011518705.1:c.371G>A XP_011517007.1:p.Arg124His
XM_005272200.3:c.257G>A XP_005272257.1:p.Arg86His
XM_011518705.2:c.371G>A XP_011517007.1:p.Arg124His
XM_017014729.1:c.353G>A XP_016870218.1:p.Arg118His
NM_054012.4:c.257G>A MANE Select NP_446464.1:p.Arg86His
Search 100 bp 5'
Search 100 bp 3'