Canonical Allele Identifier: CA340636325

Gene: ALG6

Linked Data

• gnomAD v4: 1-63414062-A-T
• MyVariant Identifiers: chr1:g.63879733A>T (hg19) ; chr1:g.63414062A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414062A>T , CM000663.2:g.63414062A>T	GRCh38
NC_000001.10:g.63879733A>T , CM000663.1:g.63879733A>T	GRCh37
NC_000001.9:g.63652321A>T	NCBI36
NG_008925.2:g.51473A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.818A>T MANE Select	ENSP00000263440.5:p.Asp273Val
ENST00000603108.6:c.818A>T	ENSP00000473934.2:p.Asp273Val
ENST00000647818.1:c.*124A>T	ENSP00000497667.1:n.*124A>T
ENST00000648964.1:c.*547A>T	ENSP00000497828.1:n.*547A>T
ENST00000649570.1:c.*249-9A>T	ENSP00000497742.1:n.*249-9A>T
ENST00000650494.1:c.*120A>T	ENSP00000497170.1:n.*120A>T
ENST00000263440.4:c.824A>T	ENSP00000263440.4:p.Asp275Val
ENST00000371108.8:c.818A>T	ENSP00000360149.4:p.Asp273Val
ENST00000465969.5:n.407A>T
ENST00000603108.5:c.827-1811A>T	ENSP00000473934.1:n.827-1811A>T
NM_013339.3:c.818A>T	NP_037471.2:p.Asp273Val
NM_013339.4:c.818A>T MANE Select	NP_037471.2:p.Asp273Val