Canonical Allele Identifier: CA340636329

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63879734T>G (hg19) ; chr1:g.63414063T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414063T>G , CM000663.2:g.63414063T>G	GRCh38
NC_000001.10:g.63879734T>G , CM000663.1:g.63879734T>G	GRCh37
NC_000001.9:g.63652322T>G	NCBI36
NG_008925.2:g.51474T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.819T>G MANE Select	ENSP00000263440.5:p.Asp273Glu
ENST00000603108.6:c.819T>G	ENSP00000473934.2:p.Asp273Glu
ENST00000647818.1:c.*125T>G	ENSP00000497667.1:n.*125T>G
ENST00000648964.1:c.*548T>G	ENSP00000497828.1:n.*548T>G
ENST00000649570.1:c.*249-8T>G	ENSP00000497742.1:n.*249-8T>G
ENST00000650494.1:c.*121T>G	ENSP00000497170.1:n.*121T>G
ENST00000263440.4:c.825T>G	ENSP00000263440.4:p.Asp275Glu
ENST00000371108.8:c.819T>G	ENSP00000360149.4:p.Asp273Glu
ENST00000465969.5:n.408T>G
ENST00000603108.5:c.827-1810T>G	ENSP00000473934.1:n.827-1810T>G
NM_013339.3:c.819T>G	NP_037471.2:p.Asp273Glu
NM_013339.4:c.819T>G MANE Select	NP_037471.2:p.Asp273Glu