Canonical Allele Identifier: CA340636345

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63879737A>C (hg19) ; chr1:g.63414066A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414066A>C , CM000663.2:g.63414066A>C	GRCh38
NC_000001.10:g.63879737A>C , CM000663.1:g.63879737A>C	GRCh37
NC_000001.9:g.63652325A>C	NCBI36
NG_008925.2:g.51477A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.822A>C MANE Select	ENSP00000263440.5:p.Lys274Asn
ENST00000603108.6:c.822A>C	ENSP00000473934.2:p.Lys274Asn
ENST00000647818.1:c.*128A>C	ENSP00000497667.1:n.*128A>C
ENST00000648964.1:c.*551A>C	ENSP00000497828.1:n.*551A>C
ENST00000649570.1:c.*249-5A>C	ENSP00000497742.1:n.*249-5A>C
ENST00000650494.1:c.*124A>C	ENSP00000497170.1:n.*124A>C
ENST00000263440.4:c.828A>C	ENSP00000263440.4:p.Lys276Asn
ENST00000371108.8:c.822A>C	ENSP00000360149.4:p.Lys274Asn
ENST00000465969.5:n.411A>C
ENST00000603108.5:c.827-1807A>C	ENSP00000473934.1:n.827-1807A>C
NM_013339.3:c.822A>C	NP_037471.2:p.Lys274Asn
NM_013339.4:c.822A>C MANE Select	NP_037471.2:p.Lys274Asn