Canonical Allele Identifier: CA340637581

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881572C>G (hg19) ; chr1:g.63415901C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415901C>G , CM000663.2:g.63415901C>G	GRCh38
NC_000001.10:g.63881572C>G , CM000663.1:g.63881572C>G	GRCh37
NC_000001.9:g.63654160C>G	NCBI36
NG_008925.2:g.53312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.931C>G MANE Select	ENSP00000263440.5:p.Pro311Ala
ENST00000603108.6:c.*80C>G	ENSP00000473934.2:n.*80C>G
ENST00000647818.1:c.*237C>G	ENSP00000497667.1:n.*237C>G
ENST00000648964.1:c.*660C>G	ENSP00000497828.1:n.*660C>G
ENST00000649570.1:c.*353C>G	ENSP00000497742.1:n.*353C>G
ENST00000650494.1:c.*288C>G	ENSP00000497170.1:n.*288C>G
ENST00000263440.4:c.937C>G	ENSP00000263440.4:p.Pro313Ala
ENST00000371108.8:c.931C>G	ENSP00000360149.4:p.Pro311Ala
ENST00000465969.5:n.520C>G
ENST00000603108.5:c.*9C>G	ENSP00000473934.1:n.*9C>G
NM_013339.3:c.931C>G	NP_037471.2:p.Pro311Ala
NM_013339.4:c.931C>G MANE Select	NP_037471.2:p.Pro311Ala