Canonical Allele Identifier: CA340637660

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881610A>C (hg19) ; chr1:g.63415939A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415939A>C , CM000663.2:g.63415939A>C	GRCh38
NC_000001.10:g.63881610A>C , CM000663.1:g.63881610A>C	GRCh37
NC_000001.9:g.63654198A>C	NCBI36
NG_008925.2:g.53350A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.969A>C MANE Select	ENSP00000263440.5:p.Lys323Asn
ENST00000603108.6:c.*118A>C	ENSP00000473934.2:n.*118A>C
ENST00000647818.1:c.*275A>C	ENSP00000497667.1:n.*275A>C
ENST00000648964.1:c.*698A>C	ENSP00000497828.1:n.*698A>C
ENST00000649570.1:c.*391A>C	ENSP00000497742.1:n.*391A>C
ENST00000650494.1:c.*326A>C	ENSP00000497170.1:n.*326A>C
ENST00000263440.4:c.975A>C	ENSP00000263440.4:p.Lys325Asn
ENST00000371108.8:c.969A>C	ENSP00000360149.4:p.Lys323Asn
ENST00000465969.5:n.558A>C
ENST00000603108.5:c.*47A>C	ENSP00000473934.1:n.*47A>C
NM_013339.3:c.969A>C	NP_037471.2:p.Lys323Asn
NM_013339.4:c.969A>C MANE Select	NP_037471.2:p.Lys323Asn