Canonical Allele Identifier: CA148603
Gene: ALG6 HGNC NCBI
COSMIC:
COSM5653790 (not active)
COSM5653791 (not active)
MyVariant.info:
GRCh38 chr1:g.63415881C>T
GRCh37 chr1:g.63881552C>T
Revel Score:
ENST00000371108 0.187
ENST00000263440 (MANE Select) 0.187
gnomAD v2:
1:63881552 C / T
gnomAD v3:
1:63415881 C / T
gnomAD v4:
chr1-63415881-C-T
Joint Max Group AF 0.86304216 (AFR)
Genomes Max Group AF 0.85913043 (AFR)
Exomes Max Group AF 0.86275 (AFR)
ClinVar RCV:
RCV000081560
RCV000323730
ClinVar Variation:
95531
dbSNP:
4630153
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63415881C>T , CM000663.2:g.63415881C>T GRCh38
NC_000001.10:g.63881552C>T , CM000663.1:g.63881552C>T GRCh37
NC_000001.9:g.63654140C>T NCBI36
NG_008925.2:g.53292C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263440.6:c.911C>T MANE Select ENSP00000263440.5:p.Ser304Phe
ENST00000603108.6:c.*60C>T ENSP00000473934.2:n.*60C>T
ENST00000647818.1:c.*217C>T ENSP00000497667.1:n.*217C>T
ENST00000648964.1:c.*640C>T ENSP00000497828.1:n.*640C>T
ENST00000649570.1:c.*333C>T ENSP00000497742.1:n.*333C>T
ENST00000650494.1:c.*268C>T ENSP00000497170.1:n.*268C>T
ENST00000263440.4:c.917C>T ENSP00000263440.4:p.Ser306Phe
ENST00000371108.8:c.911C>T ENSP00000360149.4:p.Ser304Phe
ENST00000465969.5:n.500C>T
ENST00000603108.5:c.835C>T ENSP00000473934.1:p.Leu279=
NM_013339.3:c.911C>T NP_037471.2:p.Ser304Phe
NM_013339.4:c.911C>T MANE Select NP_037471.2:p.Ser304Phe
Search 100 bp 5'
Search 100 bp 3'