Canonical Allele Identifier: CA418202754

Gene: ALG6

Linked Data

• ClinVar Variation Id: 1147007
• ClinVar RCV Id: RCV001486409
• dbSNP Id: rs112769742
• gnomAD v4: 1-63415885-G-T
• MyVariant Identifiers: chr1:g.63881556G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415885G>T , CM000663.2:g.63415885G>T	GRCh38
NC_000001.10:g.63881556G>T , CM000663.1:g.63881556G>T	GRCh37
NC_000001.9:g.63654144G>T	NCBI36
NG_008925.2:g.53296G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.915G>T MANE Select	ENSP00000263440.5:p.Thr305=
ENST00000603108.6:c.*64G>T	ENSP00000473934.2:n.*64G>T
ENST00000647818.1:c.*221G>T	ENSP00000497667.1:n.*221G>T
ENST00000648964.1:c.*644G>T	ENSP00000497828.1:n.*644G>T
ENST00000649570.1:c.*337G>T	ENSP00000497742.1:n.*337G>T
ENST00000650494.1:c.*272G>T	ENSP00000497170.1:n.*272G>T
ENST00000263440.4:c.921G>T	ENSP00000263440.4:p.Thr307=
ENST00000371108.8:c.915G>T	ENSP00000360149.4:p.Thr305=
ENST00000465969.5:n.504G>T
ENST00000603108.5:c.839G>T	ENSP00000473934.1:p.Arg280Leu
NM_013339.3:c.915G>T	NP_037471.2:p.Thr305=
NM_013339.4:c.915G>T MANE Select	NP_037471.2:p.Thr305=