Canonical Allele Identifier: CA523556851

Gene: ALG6

Linked Data

• dbSNP Id: rs1322259385
• gnomAD v2: 1-63879726-T-C
• gnomAD v3: 1-63414055-T-C
• gnomAD v4: 1-63414055-T-C
• MyVariant Identifiers: chr1:g.63879726T>C (hg19) ; chr1:g.63414055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414055T>C , CM000663.2:g.63414055T>C	GRCh38
NC_000001.10:g.63879726T>C , CM000663.1:g.63879726T>C	GRCh37
NC_000001.9:g.63652314T>C	NCBI36
NG_008925.2:g.51466T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.817-6T>C MANE Select	ENSP00000263440.5:n.817-6T>C
ENST00000603108.6:c.817-6T>C	ENSP00000473934.2:n.817-6T>C
ENST00000647818.1:c.*123-6T>C	ENSP00000497667.1:n.*123-6T>C
ENST00000648964.1:c.*546-6T>C	ENSP00000497828.1:n.*546-6T>C
ENST00000649570.1:c.*249-16T>C	ENSP00000497742.1:n.*249-16T>C
ENST00000650494.1:c.*119-6T>C	ENSP00000497170.1:n.*119-6T>C
ENST00000263440.4:c.823-6T>C	ENSP00000263440.4:n.823-6T>C
ENST00000371108.8:c.817-6T>C	ENSP00000360149.4:n.817-6T>C
ENST00000465969.5:n.400T>C
ENST00000603108.5:c.827-1818T>C	ENSP00000473934.1:n.827-1818T>C
NM_013339.3:c.817-6T>C	NP_037471.2:n.817-6T>C
NM_013339.4:c.817-6T>C MANE Select	NP_037471.2:n.817-6T>C