Canonical Allele Identifier: CA340637596

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881579G>T (hg19) ; chr1:g.63415908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415908G>T , CM000663.2:g.63415908G>T	GRCh38
NC_000001.10:g.63881579G>T , CM000663.1:g.63881579G>T	GRCh37
NC_000001.9:g.63654167G>T	NCBI36
NG_008925.2:g.53319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.938G>T MANE Select	ENSP00000263440.5:p.Cys313Phe
ENST00000603108.6:c.*87G>T	ENSP00000473934.2:n.*87G>T
ENST00000647818.1:c.*244G>T	ENSP00000497667.1:n.*244G>T
ENST00000648964.1:c.*667G>T	ENSP00000497828.1:n.*667G>T
ENST00000649570.1:c.*360G>T	ENSP00000497742.1:n.*360G>T
ENST00000650494.1:c.*295G>T	ENSP00000497170.1:n.*295G>T
ENST00000263440.4:c.944G>T	ENSP00000263440.4:p.Cys315Phe
ENST00000371108.8:c.938G>T	ENSP00000360149.4:p.Cys313Phe
ENST00000465969.5:n.527G>T
ENST00000603108.5:c.*16G>T	ENSP00000473934.1:n.*16G>T
NM_013339.3:c.938G>T	NP_037471.2:p.Cys313Phe
NM_013339.4:c.938G>T MANE Select	NP_037471.2:p.Cys313Phe