Canonical Allele Identifier: CA340636330

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63879735A>C (hg19) ; chr1:g.63414064A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414064A>C , CM000663.2:g.63414064A>C	GRCh38
NC_000001.10:g.63879735A>C , CM000663.1:g.63879735A>C	GRCh37
NC_000001.9:g.63652323A>C	NCBI36
NG_008925.2:g.51475A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.820A>C MANE Select	ENSP00000263440.5:p.Lys274Gln
ENST00000603108.6:c.820A>C	ENSP00000473934.2:p.Lys274Gln
ENST00000647818.1:c.*126A>C	ENSP00000497667.1:n.*126A>C
ENST00000648964.1:c.*549A>C	ENSP00000497828.1:n.*549A>C
ENST00000649570.1:c.*249-7A>C	ENSP00000497742.1:n.*249-7A>C
ENST00000650494.1:c.*122A>C	ENSP00000497170.1:n.*122A>C
ENST00000263440.4:c.826A>C	ENSP00000263440.4:p.Lys276Gln
ENST00000371108.8:c.820A>C	ENSP00000360149.4:p.Lys274Gln
ENST00000465969.5:n.409A>C
ENST00000603108.5:c.827-1809A>C	ENSP00000473934.1:n.827-1809A>C
NM_013339.3:c.820A>C	NP_037471.2:p.Lys274Gln
NM_013339.4:c.820A>C MANE Select	NP_037471.2:p.Lys274Gln