Canonical Allele Identifier: CA340636352

Gene: ALG6

Linked Data

• dbSNP Id: rs1271387707
• MyVariant Identifiers: chr1:g.63879738G>T (hg19) ; chr1:g.63414067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414067G>T , CM000663.2:g.63414067G>T	GRCh38
NC_000001.10:g.63879738G>T , CM000663.1:g.63879738G>T	GRCh37
NC_000001.9:g.63652326G>T	NCBI36
NG_008925.2:g.51478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.823G>T MANE Select	ENSP00000263440.5:p.Val275Leu
ENST00000603108.6:c.823G>T	ENSP00000473934.2:p.Val275Leu
ENST00000647818.1:c.*129G>T	ENSP00000497667.1:n.*129G>T
ENST00000648964.1:c.*552G>T	ENSP00000497828.1:n.*552G>T
ENST00000649570.1:c.*249-4G>T	ENSP00000497742.1:n.*249-4G>T
ENST00000650494.1:c.*125G>T	ENSP00000497170.1:n.*125G>T
ENST00000263440.4:c.829G>T	ENSP00000263440.4:p.Val277Leu
ENST00000371108.8:c.823G>T	ENSP00000360149.4:p.Val275Leu
ENST00000465969.5:n.412G>T
ENST00000603108.5:c.827-1806G>T	ENSP00000473934.1:n.827-1806G>T
NM_013339.3:c.823G>T	NP_037471.2:p.Val275Leu
NM_013339.4:c.823G>T MANE Select	NP_037471.2:p.Val275Leu