Canonical Allele Identifier: CA312352
Gene: ASS1 HGNC NCBI
COSMIC:
COSM462438
MyVariant.info:
GRCh38 chr9:g.130494984G>A
GRCh37 chr9:g.133370371G>A
Revel Score:
ENST00000334909 0.931
ENST00000352480 (MANE Select) 0.931
ENST00000372394 0.931
ENST00000372393 0.931
ENST00000372386 0.931
gnomAD v2:
9:133370371 G / A
gnomAD v3:
9:130494984 G / A
gnomAD v4:
chr9-130494984-G-A
Joint Max Group AF 0.00001376 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
ClinVar Allele:
200180
ClinVar RCV:
RCV000185788
RCV000633525
RCV002500568
ClinVar Variation:
203631
dbSNP:
771937610
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130494984G>A , CM000671.2:g.130494984G>A GRCh38
NC_000009.11:g.133370371G>A , CM000671.1:g.133370371G>A GRCh37
NC_000009.10:g.132360192G>A NCBI36
NG_011542.1:g.55278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.1088G>A MANE Select ENSP00000253004.6:p.Arg363Gln
ENST00000352480.9:c.1088G>A ENSP00000253004.6:p.Arg363Gln
ENST00000372386.6:n.359G>A
ENST00000372393.7:c.1088G>A ENSP00000361469.2:p.Arg363Gln
ENST00000372394.5:c.1088G>A ENSP00000361471.1:p.Arg363Gln
NM_000050.4:c.1088G>A NP_000041.2:p.Arg363Gln
NM_054012.3:c.1088G>A NP_446464.1:p.Arg363Gln
XM_005272200.2:c.1088G>A XP_005272257.1:p.Arg363Gln
XM_011518705.1:c.1202G>A XP_011517007.1:p.Arg401Gln
XR_930393.1:n.1060-2727C>T
XM_005272200.3:c.1088G>A XP_005272257.1:p.Arg363Gln
XM_011518705.2:c.1202G>A XP_011517007.1:p.Arg401Gln
XM_017014729.1:c.1184G>A XP_016870218.1:p.Arg395Gln
XR_930393.2:n.1102-2727C>T
NM_054012.4:c.1088G>A MANE Select NP_446464.1:p.Arg363Gln
Search 100 bp 5'
Search 100 bp 3'