Canonical Allele Identifier: CA223055

Gene: ALG6

Linked Data

• ClinVar Variation Id: 95527
• ClinVar RCV Id: RCV000081555
• dbSNP Id: rs398124258
• MyVariant Identifiers: chr1:g.63862228C>A (hg19) ; chr1:g.63396557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63396557C>A , CM000663.2:g.63396557C>A	GRCh38
NC_000001.10:g.63862228C>A , CM000663.1:g.63862228C>A	GRCh37
NC_000001.9:g.63634816C>A	NCBI36
NG_008925.2:g.33968C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.127C>A MANE Select	ENSP00000263440.5:p.His43Asn
ENST00000603108.6:c.127C>A	ENSP00000473934.2:p.His43Asn
ENST00000647818.1:c.127C>A	ENSP00000497667.1:p.His43Asn
ENST00000648964.1:c.83-5697C>A	ENSP00000497828.1:n.83-5697C>A
ENST00000649570.1:c.127C>A	ENSP00000497742.1:p.His43Asn
ENST00000650469.1:n.518C>A
ENST00000650494.1:c.127C>A	ENSP00000497170.1:p.His43Asn
ENST00000263440.4:c.127C>A	ENSP00000263440.4:p.His43Asn
ENST00000371108.8:c.127C>A	ENSP00000360149.4:p.His43Asn
ENST00000487136.2:c.*223C>A	ENSP00000473328.1:n.*223C>A
ENST00000603108.5:c.127C>A	ENSP00000473934.1:p.His43Asn
NM_013339.3:c.127C>A	NP_037471.2:p.His43Asn
NM_013339.4:c.127C>A MANE Select	NP_037471.2:p.His43Asn