Canonical Allele Identifier: CA340636337

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63879736A>C (hg19) ; chr1:g.63414065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414065A>C , CM000663.2:g.63414065A>C	GRCh38
NC_000001.10:g.63879736A>C , CM000663.1:g.63879736A>C	GRCh37
NC_000001.9:g.63652324A>C	NCBI36
NG_008925.2:g.51476A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.821A>C MANE Select	ENSP00000263440.5:p.Lys274Thr
ENST00000603108.6:c.821A>C	ENSP00000473934.2:p.Lys274Thr
ENST00000647818.1:c.*127A>C	ENSP00000497667.1:n.*127A>C
ENST00000648964.1:c.*550A>C	ENSP00000497828.1:n.*550A>C
ENST00000649570.1:c.*249-6A>C	ENSP00000497742.1:n.*249-6A>C
ENST00000650494.1:c.*123A>C	ENSP00000497170.1:n.*123A>C
ENST00000263440.4:c.827A>C	ENSP00000263440.4:p.Lys276Thr
ENST00000371108.8:c.821A>C	ENSP00000360149.4:p.Lys274Thr
ENST00000465969.5:n.410A>C
ENST00000603108.5:c.827-1808A>C	ENSP00000473934.1:n.827-1808A>C
NM_013339.3:c.821A>C	NP_037471.2:p.Lys274Thr
NM_013339.4:c.821A>C MANE Select	NP_037471.2:p.Lys274Thr