Canonical Allele Identifier: CA888299

Gene: ALG6

Linked Data

• ClinVar Variation Id: 1443188
• ClinVar RCV Id: RCV001953375
• dbSNP Id: rs546145736
• ExAC: 1:63881555 C / T
• gnomAD v2: 1-63881555-C-T
• gnomAD v3: 1-63415884-C-T
• gnomAD v4: 1-63415884-C-T
• MyVariant Identifiers: chr1:g.63881555C>T (hg19) ; chr1:g.63415884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415884C>T , CM000663.2:g.63415884C>T	GRCh38
NC_000001.10:g.63881555C>T , CM000663.1:g.63881555C>T	GRCh37
NC_000001.9:g.63654143C>T	NCBI36
NG_008925.2:g.53295C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.914C>T MANE Select	ENSP00000263440.5:p.Thr305Met
ENST00000603108.6:c.*63C>T	ENSP00000473934.2:n.*63C>T
ENST00000647818.1:c.*220C>T	ENSP00000497667.1:n.*220C>T
ENST00000648964.1:c.*643C>T	ENSP00000497828.1:n.*643C>T
ENST00000649570.1:c.*336C>T	ENSP00000497742.1:n.*336C>T
ENST00000650494.1:c.*271C>T	ENSP00000497170.1:n.*271C>T
ENST00000263440.4:c.920C>T	ENSP00000263440.4:p.Thr307Met
ENST00000371108.8:c.914C>T	ENSP00000360149.4:p.Thr305Met
ENST00000465969.5:n.503C>T
ENST00000603108.5:c.838C>T	ENSP00000473934.1:p.Arg280Cys
NM_013339.3:c.914C>T	NP_037471.2:p.Thr305Met
NM_013339.4:c.914C>T MANE Select	NP_037471.2:p.Thr305Met