Canonical Allele Identifier: CA253835
Gene: ASS1 HGNC NCBI
ClinVar RCV:
RCV000006702
RCV000723845
RCV001376582
ClinVar Variation:
6330
dbSNP:
121908642
gnomAD v2:
9:133364791 C / T
gnomAD v3:
9:130489404 C / T
gnomAD v4:
chr9-130489404-C-T
Joint Max Group AF 0.00005786 (EAS)
Exomes Max Group AF 0.00004907 (EAS)
MyVariant.info:
GRCh38 chr9:g.130489404C>T
GRCh37 chr9:g.133364791C>T
Revel Score:
ENST00000334909 0.920
ENST00000352480 (MANE Select) 0.920
ENST00000372394 0.920
ENST00000372393 0.920
ENST00000372386 0.920
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489404C>T , CM000671.2:g.130489404C>T GRCh38
NC_000009.11:g.133364791C>T , CM000671.1:g.133364791C>T GRCh37
NC_000009.10:g.132354612C>T NCBI36
NG_011542.1:g.49698C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.910C>T MANE Select ENSP00000253004.6:p.Arg304Trp
ENST00000352480.9:c.910C>T ENSP00000253004.6:p.Arg304Trp
ENST00000372386.6:n.181C>T
ENST00000372393.7:c.910C>T ENSP00000361469.2:p.Arg304Trp
ENST00000372394.5:c.910C>T ENSP00000361471.1:p.Arg304Trp
ENST00000470849.4:n.635C>T
ENST00000492400.5:n.419C>T
ENST00000493984.6:n.687C>T
NM_000050.4:c.910C>T NP_000041.2:p.Arg304Trp
NM_054012.3:c.910C>T NP_446464.1:p.Arg304Trp
XM_005272200.2:c.910C>T XP_005272257.1:p.Arg304Trp
XM_011518705.1:c.1024C>T XP_011517007.1:p.Arg342Trp
XM_005272200.3:c.910C>T XP_005272257.1:p.Arg304Trp
XM_011518705.2:c.1024C>T XP_011517007.1:p.Arg342Trp
XM_017014729.1:c.1006C>T XP_016870218.1:p.Arg336Trp
NM_054012.4:c.910C>T MANE Select NP_446464.1:p.Arg304Trp
Search 100 bp 5'
Search 100 bp 3'