Canonical Allele Identifier: CA340637687

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881621T>C (hg19) ; chr1:g.63415950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415950T>C , CM000663.2:g.63415950T>C	GRCh38
NC_000001.10:g.63881621T>C , CM000663.1:g.63881621T>C	GRCh37
NC_000001.9:g.63654209T>C	NCBI36
NG_008925.2:g.53361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.980T>C MANE Select	ENSP00000263440.5:p.Phe327Ser
ENST00000603108.6:c.*129T>C	ENSP00000473934.2:n.*129T>C
ENST00000647818.1:c.*286T>C	ENSP00000497667.1:n.*286T>C
ENST00000648964.1:c.*709T>C	ENSP00000497828.1:n.*709T>C
ENST00000649570.1:c.*402T>C	ENSP00000497742.1:n.*402T>C
ENST00000650494.1:c.*337T>C	ENSP00000497170.1:n.*337T>C
ENST00000263440.4:c.986T>C	ENSP00000263440.4:p.Phe329Ser
ENST00000371108.8:c.980T>C	ENSP00000360149.4:p.Phe327Ser
ENST00000465969.5:n.569T>C
ENST00000603108.5:c.*58T>C	ENSP00000473934.1:n.*58T>C
NM_013339.3:c.980T>C	NP_037471.2:p.Phe327Ser
NM_013339.4:c.980T>C MANE Select	NP_037471.2:p.Phe327Ser