Canonical Allele Identifier: CA248677
Gene: ALG6 HGNC NCBI

Linked Data

ClinVar Variation Id: 30422
dbSNP Id: rs35383149
gnomAD v2: 1-63872032-T-C
gnomAD v3: 1-63406361-T-C
gnomAD v4: 1-63406361-T-C

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