Canonical Allele Identifier: CA266755
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130480405G>A
GRCh37 chr9:g.133355792G>A
Revel Score:
ENST00000334909 0.925
ENST00000352480 (MANE Select) 0.925
ENST00000372394 0.925
ENST00000372393 0.925
ENST00000372386 0.925
gnomAD v2:
9:133355792 G / A
gnomAD v4:
chr9-130480405-G-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480405G>A , CM000671.2:g.130480405G>A GRCh38
NC_000009.11:g.133355792G>A , CM000671.1:g.133355792G>A GRCh37
NC_000009.10:g.132345613G>A NCBI36
NG_011542.1:g.40699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.794G>A MANE Select ENSP00000253004.6:p.Arg265His
ENST00000352480.9:c.794G>A ENSP00000253004.6:p.Arg265His
ENST00000372386.6:n.65G>A
ENST00000372393.7:c.794G>A ENSP00000361469.2:p.Arg265His
ENST00000372394.5:c.794G>A ENSP00000361471.1:p.Arg265His
ENST00000470849.4:n.519G>A
ENST00000492400.5:n.303G>A
ENST00000493984.6:n.571G>A
NM_000050.4:c.794G>A NP_000041.2:p.Arg265His
NM_054012.3:c.794G>A NP_446464.1:p.Arg265His
XM_005272200.2:c.794G>A XP_005272257.1:p.Arg265His
XM_011518705.1:c.908G>A XP_011517007.1:p.Arg303His
XM_005272200.3:c.794G>A XP_005272257.1:p.Arg265His
XM_011518705.2:c.908G>A XP_011517007.1:p.Arg303His
XM_017014729.1:c.890G>A XP_016870218.1:p.Arg297His
NM_054012.4:c.794G>A MANE Select NP_446464.1:p.Arg265His
Search 100 bp 5'
Search 100 bp 3'