Canonical Allele Identifier: CA418202962

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881595T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415924T>A , CM000663.2:g.63415924T>A	GRCh38
NC_000001.10:g.63881595T>A , CM000663.1:g.63881595T>A	GRCh37
NC_000001.9:g.63654183T>A	NCBI36
NG_008925.2:g.53335T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.954T>A MANE Select	ENSP00000263440.5:p.Leu318=
ENST00000603108.6:c.*103T>A	ENSP00000473934.2:n.*103T>A
ENST00000647818.1:c.*260T>A	ENSP00000497667.1:n.*260T>A
ENST00000648964.1:c.*683T>A	ENSP00000497828.1:n.*683T>A
ENST00000649570.1:c.*376T>A	ENSP00000497742.1:n.*376T>A
ENST00000650494.1:c.*311T>A	ENSP00000497170.1:n.*311T>A
ENST00000263440.4:c.960T>A	ENSP00000263440.4:p.Leu320=
ENST00000371108.8:c.954T>A	ENSP00000360149.4:p.Leu318=
ENST00000465969.5:n.543T>A
ENST00000603108.5:c.*32T>A	ENSP00000473934.1:n.*32T>A
NM_013339.3:c.954T>A	NP_037471.2:p.Leu318=
NM_013339.4:c.954T>A MANE Select	NP_037471.2:p.Leu318=