Canonical Allele Identifier: CA888314

Gene: ALG6

Linked Data

• dbSNP Id: rs777842359
• ExAC: 1:63881644 C / T
• gnomAD v2: 1-63881644-C-T
• MyVariant Identifiers: chr1:g.63881644C>T (hg19) ; chr1:g.63415973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415973C>T , CM000663.2:g.63415973C>T	GRCh38
NC_000001.10:g.63881644C>T , CM000663.1:g.63881644C>T	GRCh37
NC_000001.9:g.63654232C>T	NCBI36
NG_008925.2:g.53384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.987+16C>T MANE Select	ENSP00000263440.5:n.987+16C>T
ENST00000603108.6:c.*136+16C>T	ENSP00000473934.2:n.*136+16C>T
ENST00000647818.1:c.*293+16C>T	ENSP00000497667.1:n.*293+16C>T
ENST00000648964.1:c.*716+16C>T	ENSP00000497828.1:n.*716+16C>T
ENST00000649570.1:c.*409+16C>T	ENSP00000497742.1:n.*409+16C>T
ENST00000650494.1:c.*344+16C>T	ENSP00000497170.1:n.*344+16C>T
ENST00000263440.4:c.993+16C>T	ENSP00000263440.4:n.993+16C>T
ENST00000371108.8:c.987+16C>T	ENSP00000360149.4:n.987+16C>T
ENST00000465969.5:n.576+16C>T
ENST00000603108.5:c.*65+16C>T	ENSP00000473934.1:n.*65+16C>T
NM_013339.3:c.987+16C>T	NP_037471.2:n.987+16C>T
NM_013339.4:c.987+16C>T MANE Select	NP_037471.2:n.987+16C>T