Canonical Allele Identifier: CA340635242

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63877000G>C (hg19) ; chr1:g.63411329G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63411329G>C , CM000663.2:g.63411329G>C	GRCh38
NC_000001.10:g.63877000G>C , CM000663.1:g.63877000G>C	GRCh37
NC_000001.9:g.63649588G>C	NCBI36
NG_008925.2:g.48740G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.678G>C MANE Select	ENSP00000263440.5:p.Lys226Asn
ENST00000603108.6:c.678G>C	ENSP00000473934.2:p.Lys226Asn
ENST00000647818.1:c.569G>C	ENSP00000497667.1:p.Arg190Thr
ENST00000648964.1:c.*407G>C	ENSP00000497828.1:n.*407G>C
ENST00000649570.1:c.678G>C	ENSP00000497742.1:p.Lys226Asn
ENST00000650494.1:c.504+174G>C	ENSP00000497170.1:n.504+174G>C
ENST00000263440.4:c.684G>C	ENSP00000263440.4:p.Lys228Asn
ENST00000371108.8:c.678G>C	ENSP00000360149.4:p.Lys226Asn
ENST00000603108.5:c.684G>C	ENSP00000473934.1:p.Lys228Asn
NM_013339.3:c.678G>C	NP_037471.2:p.Lys226Asn
NM_013339.4:c.678G>C MANE Select	NP_037471.2:p.Lys226Asn