Canonical Allele Identifier: CA340637554

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881559T>G (hg19) ; chr1:g.63415888T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415888T>G , CM000663.2:g.63415888T>G	GRCh38
NC_000001.10:g.63881559T>G , CM000663.1:g.63881559T>G	GRCh37
NC_000001.9:g.63654147T>G	NCBI36
NG_008925.2:g.53299T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.918T>G MANE Select	ENSP00000263440.5:p.Phe306Leu
ENST00000603108.6:c.*67T>G	ENSP00000473934.2:n.*67T>G
ENST00000647818.1:c.*224T>G	ENSP00000497667.1:n.*224T>G
ENST00000648964.1:c.*647T>G	ENSP00000497828.1:n.*647T>G
ENST00000649570.1:c.*340T>G	ENSP00000497742.1:n.*340T>G
ENST00000650494.1:c.*275T>G	ENSP00000497170.1:n.*275T>G
ENST00000263440.4:c.924T>G	ENSP00000263440.4:p.Phe308Leu
ENST00000371108.8:c.918T>G	ENSP00000360149.4:p.Phe306Leu
ENST00000465969.5:n.507T>G
ENST00000603108.5:c.842T>G	ENSP00000473934.1:p.Phe281Cys
NM_013339.3:c.918T>G	NP_037471.2:p.Phe306Leu
NM_013339.4:c.918T>G MANE Select	NP_037471.2:p.Phe306Leu