Canonical Allele Identifier: CA340637679

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881618A>C (hg19) ; chr1:g.63415947A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415947A>C , CM000663.2:g.63415947A>C	GRCh38
NC_000001.10:g.63881618A>C , CM000663.1:g.63881618A>C	GRCh37
NC_000001.9:g.63654206A>C	NCBI36
NG_008925.2:g.53358A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.977A>C MANE Select	ENSP00000263440.5:p.Lys326Thr
ENST00000603108.6:c.*126A>C	ENSP00000473934.2:n.*126A>C
ENST00000647818.1:c.*283A>C	ENSP00000497667.1:n.*283A>C
ENST00000648964.1:c.*706A>C	ENSP00000497828.1:n.*706A>C
ENST00000649570.1:c.*399A>C	ENSP00000497742.1:n.*399A>C
ENST00000650494.1:c.*334A>C	ENSP00000497170.1:n.*334A>C
ENST00000263440.4:c.983A>C	ENSP00000263440.4:p.Lys328Thr
ENST00000371108.8:c.977A>C	ENSP00000360149.4:p.Lys326Thr
ENST00000465969.5:n.566A>C
ENST00000603108.5:c.*55A>C	ENSP00000473934.1:n.*55A>C
NM_013339.3:c.977A>C	NP_037471.2:p.Lys326Thr
NM_013339.4:c.977A>C MANE Select	NP_037471.2:p.Lys326Thr