Canonical Allele Identifier: CA10610605

Gene: ALG6

Linked Data

• ClinVar Variation Id: 297844
• ClinVar RCV Id: RCV000298202
• dbSNP Id: rs188685870
• gnomAD v2: 1-63836521-C-T
• gnomAD v3: 1-63370850-C-T
• gnomAD v4: 1-63370850-C-T
• MyVariant Identifiers: chr1:g.63836521C>T (hg19) ; chr1:g.63370850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63370850C>T , CM000663.2:g.63370850C>T	GRCh38
NC_000001.10:g.63836521C>T , CM000663.1:g.63836521C>T	GRCh37
NC_000001.9:g.63609109C>T	NCBI36
NG_008925.2:g.8261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.-128C>T MANE Select	ENSP00000263440.5:n.-128C>T
ENST00000603108.6:c.-128C>T	ENSP00000473934.2:n.-128C>T
ENST00000647818.1:c.-128C>T	ENSP00000497667.1:n.-128C>T
ENST00000648964.1:c.-128C>T	ENSP00000497828.1:n.-128C>T
ENST00000649570.1:c.-128C>T	ENSP00000497742.1:n.-128C>T
ENST00000650331.1:n.534C>T
ENST00000650469.1:n.141C>T
ENST00000650494.1:c.-128C>T	ENSP00000497170.1:n.-128C>T
ENST00000263440.4:c.-128C>T	ENSP00000263440.4:n.-128C>T
ENST00000371108.8:c.-128C>T	ENSP00000360149.4:n.-128C>T
ENST00000487136.2:c.-128C>T	ENSP00000473328.1:n.-128C>T
ENST00000603108.5:c.-128C>T	ENSP00000473934.1:n.-128C>T
NM_013339.3:c.-128C>T	NP_037471.2:n.-128C>T
NM_013339.4:c.-128C>T MANE Select	NP_037471.2:n.-128C>T