Canonical Allele Identifier: CA340637545

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881554A>T (hg19) ; chr1:g.63415883A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415883A>T , CM000663.2:g.63415883A>T	GRCh38
NC_000001.10:g.63881554A>T , CM000663.1:g.63881554A>T	GRCh37
NC_000001.9:g.63654142A>T	NCBI36
NG_008925.2:g.53294A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.913A>T MANE Select	ENSP00000263440.5:p.Thr305Ser
ENST00000603108.6:c.*62A>T	ENSP00000473934.2:n.*62A>T
ENST00000647818.1:c.*219A>T	ENSP00000497667.1:n.*219A>T
ENST00000648964.1:c.*642A>T	ENSP00000497828.1:n.*642A>T
ENST00000649570.1:c.*335A>T	ENSP00000497742.1:n.*335A>T
ENST00000650494.1:c.*270A>T	ENSP00000497170.1:n.*270A>T
ENST00000263440.4:c.919A>T	ENSP00000263440.4:p.Thr307Ser
ENST00000371108.8:c.913A>T	ENSP00000360149.4:p.Thr305Ser
ENST00000465969.5:n.502A>T
ENST00000603108.5:c.837A>T	ENSP00000473934.1:p.Leu279=
NM_013339.3:c.913A>T	NP_037471.2:p.Thr305Ser
NM_013339.4:c.913A>T MANE Select	NP_037471.2:p.Thr305Ser