Canonical Allele Identifier: CA248677
Gene: ALG6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63406361T>C
GRCh37 chr1:g.63872032T>C
Revel Score:
ENST00000371108 0.414
ENST00000263440 (MANE Select) 0.414
gnomAD v2:
1:63872032 T / C
gnomAD v3:
1:63406361 T / C
gnomAD v4:
chr1-63406361-T-C
Joint Max Group AF 0.0378744 (NFE)
Genomes Max Group AF 0.03753706 (NFE)
Exomes Max Group AF 0.03782896 (NFE)
ClinVar RCV:
RCV000023375
RCV000081558
ClinVar Variation:
30422
dbSNP:
35383149
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63406361T>C , CM000663.2:g.63406361T>C GRCh38
NC_000001.10:g.63872032T>C , CM000663.1:g.63872032T>C GRCh37
NC_000001.9:g.63644620T>C NCBI36
NG_008925.2:g.43772T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263440.6:c.391T>C MANE Select ENSP00000263440.5:p.Tyr131His
ENST00000603108.6:c.391T>C ENSP00000473934.2:p.Tyr131His
ENST00000647818.1:c.391T>C ENSP00000497667.1:p.Tyr131His
ENST00000648964.1:c.*120T>C ENSP00000497828.1:n.*120T>C
ENST00000649570.1:c.391T>C ENSP00000497742.1:p.Tyr131His
ENST00000650494.1:c.391T>C ENSP00000497170.1:p.Tyr131His
ENST00000263440.4:c.391T>C ENSP00000263440.4:p.Tyr131His
ENST00000371108.8:c.391T>C ENSP00000360149.4:p.Tyr131His
ENST00000603108.5:c.391T>C ENSP00000473934.1:p.Tyr131His
NM_013339.3:c.391T>C NP_037471.2:p.Tyr131His
NM_013339.4:c.391T>C MANE Select NP_037471.2:p.Tyr131His
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