Canonical Allele Identifier: CA23799092

Gene: ALG6

Linked Data

• ClinVar Variation Id: 510668
• ClinVar RCV Id: RCV000601659
• dbSNP Id: rs924330655
• gnomAD v3: 1-63370782-A-G
• gnomAD v4: 1-63370782-A-G
• MyVariant Identifiers: chr1:g.63836453A>G (hg19) ; chr1:g.63370782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63370782A>G , CM000663.2:g.63370782A>G	GRCh38
NC_000001.10:g.63836453A>G , CM000663.1:g.63836453A>G	GRCh37
NC_000001.9:g.63609041A>G	NCBI36
NG_008925.2:g.8193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.-196A>G MANE Select	ENSP00000263440.5:n.-196A>G
ENST00000603108.6:c.-196A>G	ENSP00000473934.2:n.-196A>G
ENST00000647818.1:c.-196A>G	ENSP00000497667.1:n.-196A>G
ENST00000648964.1:c.-196A>G	ENSP00000497828.1:n.-196A>G
ENST00000649570.1:c.-196A>G	ENSP00000497742.1:n.-196A>G
ENST00000650331.1:n.466A>G
ENST00000650469.1:n.73A>G
ENST00000650494.1:c.-196A>G	ENSP00000497170.1:n.-196A>G
ENST00000263440.4:c.-196A>G	ENSP00000263440.4:n.-196A>G
ENST00000371108.8:c.-196A>G	ENSP00000360149.4:n.-196A>G
ENST00000487136.2:c.-196A>G	ENSP00000473328.1:n.-196A>G
ENST00000603108.5:c.-196A>G	ENSP00000473934.1:n.-196A>G
NM_013339.3:c.-196A>G	NP_037471.2:n.-196A>G
NM_013339.4:c.-196A>G MANE Select	NP_037471.2:n.-196A>G