Canonical Allele Identifier: CA340637635

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881598G>T (hg19) ; chr1:g.63415927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415927G>T , CM000663.2:g.63415927G>T	GRCh38
NC_000001.10:g.63881598G>T , CM000663.1:g.63881598G>T	GRCh37
NC_000001.9:g.63654186G>T	NCBI36
NG_008925.2:g.53338G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.957G>T MANE Select	ENSP00000263440.5:p.Gln319His
ENST00000603108.6:c.*106G>T	ENSP00000473934.2:n.*106G>T
ENST00000647818.1:c.*263G>T	ENSP00000497667.1:n.*263G>T
ENST00000648964.1:c.*686G>T	ENSP00000497828.1:n.*686G>T
ENST00000649570.1:c.*379G>T	ENSP00000497742.1:n.*379G>T
ENST00000650494.1:c.*314G>T	ENSP00000497170.1:n.*314G>T
ENST00000263440.4:c.963G>T	ENSP00000263440.4:p.Gln321His
ENST00000371108.8:c.957G>T	ENSP00000360149.4:p.Gln319His
ENST00000465969.5:n.546G>T
ENST00000603108.5:c.*35G>T	ENSP00000473934.1:n.*35G>T
NM_013339.3:c.957G>T	NP_037471.2:p.Gln319His
NM_013339.4:c.957G>T MANE Select	NP_037471.2:p.Gln319His