Canonical Allele Identifier: CA340637558

Gene: ALG6

Linked Data

• dbSNP Id: rs1644543791
• MyVariant Identifiers: chr1:g.63881561T>C (hg19) ; chr1:g.63415890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415890T>C , CM000663.2:g.63415890T>C	GRCh38
NC_000001.10:g.63881561T>C , CM000663.1:g.63881561T>C	GRCh37
NC_000001.9:g.63654149T>C	NCBI36
NG_008925.2:g.53301T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.920T>C MANE Select	ENSP00000263440.5:p.Leu307Ser
ENST00000603108.6:c.*69T>C	ENSP00000473934.2:n.*69T>C
ENST00000647818.1:c.*226T>C	ENSP00000497667.1:n.*226T>C
ENST00000648964.1:c.*649T>C	ENSP00000497828.1:n.*649T>C
ENST00000649570.1:c.*342T>C	ENSP00000497742.1:n.*342T>C
ENST00000650494.1:c.*277T>C	ENSP00000497170.1:n.*277T>C
ENST00000263440.4:c.926T>C	ENSP00000263440.4:p.Leu309Ser
ENST00000371108.8:c.920T>C	ENSP00000360149.4:p.Leu307Ser
ENST00000465969.5:n.509T>C
ENST00000603108.5:c.844T>C	ENSP00000473934.1:p.Ter282Arg
NM_013339.3:c.920T>C	NP_037471.2:p.Leu307Ser
NM_013339.4:c.920T>C MANE Select	NP_037471.2:p.Leu307Ser