Canonical Allele Identifier: CA888275

Gene: ALG6

Linked Data

• dbSNP Id: rs746213554
• ExAC: 1:63879739 T / C
• gnomAD v2: 1-63879739-T-C
• gnomAD v3: 1-63414068-T-C
• gnomAD v4: 1-63414068-T-C
• MyVariant Identifiers: chr1:g.63879739T>C (hg19) ; chr1:g.63414068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414068T>C , CM000663.2:g.63414068T>C	GRCh38
NC_000001.10:g.63879739T>C , CM000663.1:g.63879739T>C	GRCh37
NC_000001.9:g.63652327T>C	NCBI36
NG_008925.2:g.51479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.824T>C MANE Select	ENSP00000263440.5:p.Val275Ala
ENST00000603108.6:c.824T>C	ENSP00000473934.2:p.Val275Ala
ENST00000647818.1:c.*130T>C	ENSP00000497667.1:n.*130T>C
ENST00000648964.1:c.*553T>C	ENSP00000497828.1:n.*553T>C
ENST00000649570.1:c.*249-3T>C	ENSP00000497742.1:n.*249-3T>C
ENST00000650494.1:c.*126T>C	ENSP00000497170.1:n.*126T>C
ENST00000263440.4:c.830T>C	ENSP00000263440.4:p.Val277Ala
ENST00000371108.8:c.824T>C	ENSP00000360149.4:p.Val275Ala
ENST00000465969.5:n.413T>C
ENST00000603108.5:c.827-1805T>C	ENSP00000473934.1:n.827-1805T>C
NM_013339.3:c.824T>C	NP_037471.2:p.Val275Ala
NM_013339.4:c.824T>C MANE Select	NP_037471.2:p.Val275Ala