Canonical Allele Identifier: CA340637551

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881558T>C (hg19) ; chr1:g.63415887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415887T>C , CM000663.2:g.63415887T>C	GRCh38
NC_000001.10:g.63881558T>C , CM000663.1:g.63881558T>C	GRCh37
NC_000001.9:g.63654146T>C	NCBI36
NG_008925.2:g.53298T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.917T>C MANE Select	ENSP00000263440.5:p.Phe306Ser
ENST00000603108.6:c.*66T>C	ENSP00000473934.2:n.*66T>C
ENST00000647818.1:c.*223T>C	ENSP00000497667.1:n.*223T>C
ENST00000648964.1:c.*646T>C	ENSP00000497828.1:n.*646T>C
ENST00000649570.1:c.*339T>C	ENSP00000497742.1:n.*339T>C
ENST00000650494.1:c.*274T>C	ENSP00000497170.1:n.*274T>C
ENST00000263440.4:c.923T>C	ENSP00000263440.4:p.Phe308Ser
ENST00000371108.8:c.917T>C	ENSP00000360149.4:p.Phe306Ser
ENST00000465969.5:n.506T>C
ENST00000603108.5:c.841T>C	ENSP00000473934.1:p.Phe281Leu
NM_013339.3:c.917T>C	NP_037471.2:p.Phe306Ser
NM_013339.4:c.917T>C MANE Select	NP_037471.2:p.Phe306Ser