Canonical Allele Identifier: CA253830
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130466774G>A
GRCh37 chr9:g.133342161G>A
Revel Score:
ENST00000334909 0.930
ENST00000352480 (MANE Select) 0.930
ENST00000372394 0.930
ENST00000372393 0.930
ENST00000422569 0.930
ENST00000443588 0.930
gnomAD v2:
9:133342161 G / A
gnomAD v3:
9:130466774 G / A
gnomAD v4:
chr9-130466774-G-A
Joint Max Group AF 0.00018073 (SAS)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00019167 (SAS)
ClinVar Allele:
21364
ClinVar RCV:
RCV000006697
RCV000259104
RCV001376613
ClinVar Variation:
6325
dbSNP:
121908637
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130466774G>A , CM000671.2:g.130466774G>A GRCh38
NC_000009.11:g.133342161G>A , CM000671.1:g.133342161G>A GRCh37
NC_000009.10:g.132331982G>A NCBI36
NG_011542.1:g.27068G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.470G>A MANE Select ENSP00000253004.6:p.Arg157His
ENST00000352480.9:c.470G>A ENSP00000253004.6:p.Arg157His
ENST00000372393.7:c.470G>A ENSP00000361469.2:p.Arg157His
ENST00000372394.5:c.470G>A ENSP00000361471.1:p.Arg157His
ENST00000422569.5:c.470G>A ENSP00000394212.1:p.Arg157His
ENST00000443588.1:c.413G>A ENSP00000397785.1:p.Arg138His
ENST00000467695.5:n.179G>A
ENST00000493984.6:n.301G>A
NM_000050.4:c.470G>A NP_000041.2:p.Arg157His
NM_054012.3:c.470G>A NP_446464.1:p.Arg157His
XM_005272200.2:c.470G>A XP_005272257.1:p.Arg157His
XM_011518705.1:c.584G>A XP_011517007.1:p.Arg195His
XM_005272200.3:c.470G>A XP_005272257.1:p.Arg157His
XM_011518705.2:c.584G>A XP_011517007.1:p.Arg195His
XM_017014729.1:c.566G>A XP_016870218.1:p.Arg189His
NM_054012.4:c.470G>A MANE Select NP_446464.1:p.Arg157His
Search 100 bp 5'
Search 100 bp 3'