Canonical Allele Identifier: CA18006933
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs567037107

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844021T>G , CM000663.2:g.11844021T>G GRCh38
NC_000001.10:g.11904078T>G , CM000663.1:g.11904078T>G GRCh37
NC_000001.9:g.11826665T>G NCBI36
NG_008766.1:g.42872T>G
NG_012926.1:g.8763A>C , LRG_751:g.8763A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1689T>G (CLCN6) ENSP00000496938.1:n.*1689T>G
ENST00000446542.5:n.509T>G (NPPA-AS1)
NR_037806.1:n.1207T>G (NPPA-AS1)