Canonical Allele Identifier: CA5283610
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130494899C>T
GRCh37 chr9:g.133370286C>T
Revel Score:
ENST00000334909 0.908
ENST00000352480 (MANE Select) 0.908
ENST00000372394 0.908
ENST00000372393 0.908
ENST00000372386 0.908
gnomAD v2:
9:133370286 C / T
gnomAD v3:
9:130494899 C / T
gnomAD v4:
chr9-130494899-C-T
Joint Max Group AF 0.00044729 (SAS)
Genomes Max Group AF 0.00005281 (AMR)
Exomes Max Group AF 0.00046187 (SAS)
ClinVar RCV:
RCV000633519
RCV002529816
ClinVar Variation:
528370
dbSNP:
373514077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130494899C>T , CM000671.2:g.130494899C>T GRCh38
NC_000009.11:g.133370286C>T , CM000671.1:g.133370286C>T GRCh37
NC_000009.10:g.132360107C>T NCBI36
NG_011542.1:g.55193C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.1003C>T MANE Select ENSP00000253004.6:p.Arg335Cys
ENST00000352480.9:c.1003C>T ENSP00000253004.6:p.Arg335Cys
ENST00000372386.6:n.274C>T
ENST00000372393.7:c.1003C>T ENSP00000361469.2:p.Arg335Cys
ENST00000372394.5:c.1003C>T ENSP00000361471.1:p.Arg335Cys
NM_000050.4:c.1003C>T NP_000041.2:p.Arg335Cys
NM_054012.3:c.1003C>T NP_446464.1:p.Arg335Cys
XM_005272200.2:c.1003C>T XP_005272257.1:p.Arg335Cys
XM_011518705.1:c.1117C>T XP_011517007.1:p.Arg373Cys
XR_930393.1:n.1060-2642G>A
XM_005272200.3:c.1003C>T XP_005272257.1:p.Arg335Cys
XM_011518705.2:c.1117C>T XP_011517007.1:p.Arg373Cys
XM_017014729.1:c.1099C>T XP_016870218.1:p.Arg367Cys
XR_930393.2:n.1102-2642G>A
NM_054012.4:c.1003C>T MANE Select NP_446464.1:p.Arg335Cys
Search 100 bp 5'
Search 100 bp 3'