Canonical Allele Identifier: CA5283398
Gene: ASS1 HGNC NCBI
COSMIC:
COSM4619342 (not active)
MyVariant.info:
GRCh38 chr9:g.130476878C>T
GRCh37 chr9:g.133352265C>T
Revel Score:
ENST00000334909 0.571
ENST00000352480 (MANE Select) 0.571
ENST00000372394 0.571
ENST00000372393 0.571
gnomAD v2:
9:133352265 C / T
gnomAD v3:
9:130476878 C / T
gnomAD v4:
chr9-130476878-C-T
Joint Max Group AF 0.00001221 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001093 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130476878C>T , CM000671.2:g.130476878C>T GRCh38
NC_000009.11:g.133352265C>T , CM000671.1:g.133352265C>T GRCh37
NC_000009.10:g.132342086C>T NCBI36
NG_011542.1:g.37172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.605C>T MANE Select ENSP00000253004.6:p.Ala202Val
ENST00000352480.9:c.605C>T ENSP00000253004.6:p.Ala202Val
ENST00000372393.7:c.605C>T ENSP00000361469.2:p.Ala202Val
ENST00000372394.5:c.605C>T ENSP00000361471.1:p.Ala202Val
ENST00000467695.5:n.314C>T
ENST00000470849.4:n.330C>T
ENST00000492400.5:n.114C>T
ENST00000493984.6:n.436C>T
NM_000050.4:c.605C>T NP_000041.2:p.Ala202Val
NM_054012.3:c.605C>T NP_446464.1:p.Ala202Val
XM_005272200.2:c.605C>T XP_005272257.1:p.Ala202Val
XM_011518705.1:c.719C>T XP_011517007.1:p.Ala240Val
XM_005272200.3:c.605C>T XP_005272257.1:p.Ala202Val
XM_011518705.2:c.719C>T XP_011517007.1:p.Ala240Val
XM_017014729.1:c.701C>T XP_016870218.1:p.Ala234Val
NM_054012.4:c.605C>T MANE Select NP_446464.1:p.Ala202Val
Search 100 bp 5'
Search 100 bp 3'