Canonical Allele Identifier: CA340637618

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881589A>T (hg19) ; chr1:g.63415918A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415918A>T , CM000663.2:g.63415918A>T	GRCh38
NC_000001.10:g.63881589A>T , CM000663.1:g.63881589A>T	GRCh37
NC_000001.9:g.63654177A>T	NCBI36
NG_008925.2:g.53329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.948A>T MANE Select	ENSP00000263440.5:p.Leu316Phe
ENST00000603108.6:c.*97A>T	ENSP00000473934.2:n.*97A>T
ENST00000647818.1:c.*254A>T	ENSP00000497667.1:n.*254A>T
ENST00000648964.1:c.*677A>T	ENSP00000497828.1:n.*677A>T
ENST00000649570.1:c.*370A>T	ENSP00000497742.1:n.*370A>T
ENST00000650494.1:c.*305A>T	ENSP00000497170.1:n.*305A>T
ENST00000263440.4:c.954A>T	ENSP00000263440.4:p.Leu318Phe
ENST00000371108.8:c.948A>T	ENSP00000360149.4:p.Leu316Phe
ENST00000465969.5:n.537A>T
ENST00000603108.5:c.*26A>T	ENSP00000473934.1:n.*26A>T
NM_013339.3:c.948A>T	NP_037471.2:p.Leu316Phe
NM_013339.4:c.948A>T MANE Select	NP_037471.2:p.Leu316Phe