Canonical Allele Identifier: CA340637563

Gene: ALG6

Linked Data

• gnomAD v4: 1-63415892-A-T
• MyVariant Identifiers: chr1:g.63881563A>T (hg19) ; chr1:g.63415892A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415892A>T , CM000663.2:g.63415892A>T	GRCh38
NC_000001.10:g.63881563A>T , CM000663.1:g.63881563A>T	GRCh37
NC_000001.9:g.63654151A>T	NCBI36
NG_008925.2:g.53303A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.922A>T MANE Select	ENSP00000263440.5:p.Ser308Cys
ENST00000603108.6:c.*71A>T	ENSP00000473934.2:n.*71A>T
ENST00000647818.1:c.*228A>T	ENSP00000497667.1:n.*228A>T
ENST00000648964.1:c.*651A>T	ENSP00000497828.1:n.*651A>T
ENST00000649570.1:c.*344A>T	ENSP00000497742.1:n.*344A>T
ENST00000650494.1:c.*279A>T	ENSP00000497170.1:n.*279A>T
ENST00000263440.4:c.928A>T	ENSP00000263440.4:p.Ser310Cys
ENST00000371108.8:c.922A>T	ENSP00000360149.4:p.Ser308Cys
ENST00000465969.5:n.511A>T
ENST00000603108.5:c.846A>T	ENSP00000473934.1:p.Ter282Cys
NM_013339.3:c.922A>T	NP_037471.2:p.Ser308Cys
NM_013339.4:c.922A>T MANE Select	NP_037471.2:p.Ser308Cys