Canonical Allele Identifier: CA340637677

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881617A>T (hg19) ; chr1:g.63415946A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415946A>T , CM000663.2:g.63415946A>T	GRCh38
NC_000001.10:g.63881617A>T , CM000663.1:g.63881617A>T	GRCh37
NC_000001.9:g.63654205A>T	NCBI36
NG_008925.2:g.53357A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.976A>T MANE Select	ENSP00000263440.5:p.Lys326Ter
ENST00000603108.6:c.*125A>T	ENSP00000473934.2:n.*125A>T
ENST00000647818.1:c.*282A>T	ENSP00000497667.1:n.*282A>T
ENST00000648964.1:c.*705A>T	ENSP00000497828.1:n.*705A>T
ENST00000649570.1:c.*398A>T	ENSP00000497742.1:n.*398A>T
ENST00000650494.1:c.*333A>T	ENSP00000497170.1:n.*333A>T
ENST00000263440.4:c.982A>T	ENSP00000263440.4:p.Lys328Ter
ENST00000371108.8:c.976A>T	ENSP00000360149.4:p.Lys326Ter
ENST00000465969.5:n.565A>T
ENST00000603108.5:c.*54A>T	ENSP00000473934.1:n.*54A>T
NM_013339.3:c.976A>T	NP_037471.2:p.Lys326Ter
NM_013339.4:c.976A>T MANE Select	NP_037471.2:p.Lys326Ter