Canonical Allele Identifier: CA10611342
Gene: ALG6 HGNC NCBI

Linked Data

ClinVar Variation Id: 297867
ClinVar RCV Id: RCV000280501
dbSNP Id: rs75309742
gnomAD v2: 1-63904013-A-G
gnomAD v3: 1-63438342-A-G
gnomAD v4: 1-63438342-A-G
MyVariant Identifiers: chr1:g.63904013A>G (hg19) chr1:g.63438342A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63438342A>G , CM000663.2:g.63438342A>G GRCh38
NC_000001.10:g.63904013A>G , CM000663.1:g.63904013A>G GRCh37
NC_000001.9:g.63676601A>G NCBI36
NG_008925.2:g.75753A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263440.6:c.*1322A>G MANE Select ENSP00000263440.5:n.*1322A>G
ENST00000371108.8:c.*1322A>G ENSP00000360149.4:n.*1322A>G
NM_013339.3:c.*1322A>G NP_037471.2:n.*1322A>G
NM_013339.4:c.*1322A>G MANE Select NP_037471.2:n.*1322A>G
Search 100 bp 5'
Search 100 bp 3'