Canonical Allele Identifier: CA118130
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130470873T>C
GRCh37 chr9:g.133346260T>C
Revel Score:
ENST00000334909 0.922
ENST00000352480 (MANE Select) 0.922
ENST00000372394 0.922
ENST00000372393 0.922
ENST00000422569 0.922
ENST00000443588 0.922
gnomAD v2:
9:133346260 T / C
gnomAD v3:
9:130470873 T / C
gnomAD v4:
chr9-130470873-T-C
Joint Max Group AF 0.00013407 (MID)
Genomes Max Group AF 0.0000791 (NFE)
Exomes Max Group AF 0.00014138 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130470873T>C , CM000671.2:g.130470873T>C GRCh38
NC_000009.11:g.133346260T>C , CM000671.1:g.133346260T>C GRCh37
NC_000009.10:g.132336081T>C NCBI36
NG_011542.1:g.31167T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.535T>C MANE Select ENSP00000253004.6:p.Trp179Arg
ENST00000352480.9:c.535T>C ENSP00000253004.6:p.Trp179Arg
ENST00000372393.7:c.535T>C ENSP00000361469.2:p.Trp179Arg
ENST00000372394.5:c.535T>C ENSP00000361471.1:p.Trp179Arg
ENST00000422569.5:c.535T>C ENSP00000394212.1:p.Trp179Arg
ENST00000443588.1:c.478T>C ENSP00000397785.1:p.Trp160Arg
ENST00000467695.5:n.244T>C
ENST00000493984.6:n.366T>C
NM_000050.4:c.535T>C NP_000041.2:p.Trp179Arg
NM_054012.3:c.535T>C NP_446464.1:p.Trp179Arg
XM_005272200.2:c.535T>C XP_005272257.1:p.Trp179Arg
XM_011518705.1:c.649T>C XP_011517007.1:p.Trp217Arg
XM_005272200.3:c.535T>C XP_005272257.1:p.Trp179Arg
XM_011518705.2:c.649T>C XP_011517007.1:p.Trp217Arg
XM_017014729.1:c.631T>C XP_016870218.1:p.Trp211Arg
NM_054012.4:c.535T>C MANE Select NP_446464.1:p.Trp179Arg
Search 100 bp 5'
Search 100 bp 3'