Canonical Allele Identifier: CA418202836

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881571T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415900T>C , CM000663.2:g.63415900T>C	GRCh38
NC_000001.10:g.63881571T>C , CM000663.1:g.63881571T>C	GRCh37
NC_000001.9:g.63654159T>C	NCBI36
NG_008925.2:g.53311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.930T>C MANE Select	ENSP00000263440.5:p.Leu310=
ENST00000603108.6:c.*79T>C	ENSP00000473934.2:n.*79T>C
ENST00000647818.1:c.*236T>C	ENSP00000497667.1:n.*236T>C
ENST00000648964.1:c.*659T>C	ENSP00000497828.1:n.*659T>C
ENST00000649570.1:c.*352T>C	ENSP00000497742.1:n.*352T>C
ENST00000650494.1:c.*287T>C	ENSP00000497170.1:n.*287T>C
ENST00000263440.4:c.936T>C	ENSP00000263440.4:p.Leu312=
ENST00000371108.8:c.930T>C	ENSP00000360149.4:p.Leu310=
ENST00000465969.5:n.519T>C
ENST00000603108.5:c.*8T>C	ENSP00000473934.1:n.*8T>C
NM_013339.3:c.930T>C	NP_037471.2:p.Leu310=
NM_013339.4:c.930T>C MANE Select	NP_037471.2:p.Leu310=