Canonical Allele Identifier: CA23808091

Gene: ALG6

Linked Data

• ClinVar Variation Id: 1990917
• ClinVar RCV Id: RCV002805936
• dbSNP Id: rs1021710355
• gnomAD v4: 1-63415930-C-T
• MyVariant Identifiers: chr1:g.63881601C>T (hg19) ; chr1:g.63415930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415930C>T , CM000663.2:g.63415930C>T	GRCh38
NC_000001.10:g.63881601C>T , CM000663.1:g.63881601C>T	GRCh37
NC_000001.9:g.63654189C>T	NCBI36
NG_008925.2:g.53341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.960C>T MANE Select	ENSP00000263440.5:p.Pro320=
ENST00000603108.6:c.*109C>T	ENSP00000473934.2:n.*109C>T
ENST00000647818.1:c.*266C>T	ENSP00000497667.1:n.*266C>T
ENST00000648964.1:c.*689C>T	ENSP00000497828.1:n.*689C>T
ENST00000649570.1:c.*382C>T	ENSP00000497742.1:n.*382C>T
ENST00000650494.1:c.*317C>T	ENSP00000497170.1:n.*317C>T
ENST00000263440.4:c.966C>T	ENSP00000263440.4:p.Pro322=
ENST00000371108.8:c.960C>T	ENSP00000360149.4:p.Pro320=
ENST00000465969.5:n.549C>T
ENST00000603108.5:c.*38C>T	ENSP00000473934.1:n.*38C>T
NM_013339.3:c.960C>T	NP_037471.2:p.Pro320=
NM_013339.4:c.960C>T MANE Select	NP_037471.2:p.Pro320=