Canonical Allele Identifier: CA151756

Gene: ALG6

Linked Data

• ClinVar Variation Id: 128355
• ClinVar RCV Id: RCV000116319 ; RCV000380628
• dbSNP Id: rs75451833
• ExAC: 1:63881622 T / C
• gnomAD v2: 1-63881622-T-C
• gnomAD v3: 1-63415951-T-C
• gnomAD v4: 1-63415951-T-C
• MyVariant Identifiers: chr1:g.63881622T>C (hg19) ; chr1:g.63415951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415951T>C , CM000663.2:g.63415951T>C	GRCh38
NC_000001.10:g.63881622T>C , CM000663.1:g.63881622T>C	GRCh37
NC_000001.9:g.63654210T>C	NCBI36
NG_008925.2:g.53362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.981T>C MANE Select	ENSP00000263440.5:p.Phe327=
ENST00000603108.6:c.*130T>C	ENSP00000473934.2:n.*130T>C
ENST00000647818.1:c.*287T>C	ENSP00000497667.1:n.*287T>C
ENST00000648964.1:c.*710T>C	ENSP00000497828.1:n.*710T>C
ENST00000649570.1:c.*403T>C	ENSP00000497742.1:n.*403T>C
ENST00000650494.1:c.*338T>C	ENSP00000497170.1:n.*338T>C
ENST00000263440.4:c.987T>C	ENSP00000263440.4:p.Phe329=
ENST00000371108.8:c.981T>C	ENSP00000360149.4:p.Phe327=
ENST00000465969.5:n.570T>C
ENST00000603108.5:c.*59T>C	ENSP00000473934.1:n.*59T>C
NM_013339.3:c.981T>C	NP_037471.2:p.Phe327=
NM_013339.4:c.981T>C MANE Select	NP_037471.2:p.Phe327=