Canonical Allele Identifier: CA148603

Gene: ALG6

Linked Data

• ClinVar Variation Id: 95531
• ClinVar RCV Id: RCV000081560 ; RCV000323730
• dbSNP Id: rs4630153
• ExAC: 1:63881552 C / T
• gnomAD v2: 1-63881552-C-T
• gnomAD v3: 1-63415881-C-T
• gnomAD v4: 1-63415881-C-T
• MyVariant Identifiers: chr1:g.63881552C>T (hg19) ; chr1:g.63415881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415881C>T , CM000663.2:g.63415881C>T	GRCh38
NC_000001.10:g.63881552C>T , CM000663.1:g.63881552C>T	GRCh37
NC_000001.9:g.63654140C>T	NCBI36
NG_008925.2:g.53292C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.911C>T MANE Select	ENSP00000263440.5:p.Ser304Phe
ENST00000603108.6:c.*60C>T	ENSP00000473934.2:n.*60C>T
ENST00000647818.1:c.*217C>T	ENSP00000497667.1:n.*217C>T
ENST00000648964.1:c.*640C>T	ENSP00000497828.1:n.*640C>T
ENST00000649570.1:c.*333C>T	ENSP00000497742.1:n.*333C>T
ENST00000650494.1:c.*268C>T	ENSP00000497170.1:n.*268C>T
ENST00000263440.4:c.917C>T	ENSP00000263440.4:p.Ser306Phe
ENST00000371108.8:c.911C>T	ENSP00000360149.4:p.Ser304Phe
ENST00000465969.5:n.500C>T
ENST00000603108.5:c.835C>T	ENSP00000473934.1:p.Leu279=
NM_013339.3:c.911C>T	NP_037471.2:p.Ser304Phe
NM_013339.4:c.911C>T MANE Select	NP_037471.2:p.Ser304Phe