Canonical Allele Identifier: CA340637675

Gene: ALG6

Linked Data

• dbSNP Id: rs1392059494
• gnomAD v2: 1-63881616-C-G
• gnomAD v4: 1-63415945-C-G
• MyVariant Identifiers: chr1:g.63881616C>G (hg19) ; chr1:g.63415945C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415945C>G , CM000663.2:g.63415945C>G	GRCh38
NC_000001.10:g.63881616C>G , CM000663.1:g.63881616C>G	GRCh37
NC_000001.9:g.63654204C>G	NCBI36
NG_008925.2:g.53356C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.975C>G MANE Select	ENSP00000263440.5:p.Phe325Leu
ENST00000603108.6:c.*124C>G	ENSP00000473934.2:n.*124C>G
ENST00000647818.1:c.*281C>G	ENSP00000497667.1:n.*281C>G
ENST00000648964.1:c.*704C>G	ENSP00000497828.1:n.*704C>G
ENST00000649570.1:c.*397C>G	ENSP00000497742.1:n.*397C>G
ENST00000650494.1:c.*332C>G	ENSP00000497170.1:n.*332C>G
ENST00000263440.4:c.981C>G	ENSP00000263440.4:p.Phe327Leu
ENST00000371108.8:c.975C>G	ENSP00000360149.4:p.Phe325Leu
ENST00000465969.5:n.564C>G
ENST00000603108.5:c.*53C>G	ENSP00000473934.1:n.*53C>G
NM_013339.3:c.975C>G	NP_037471.2:p.Phe325Leu
NM_013339.4:c.975C>G MANE Select	NP_037471.2:p.Phe325Leu