Canonical Allele Identifier: CA1153829716
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845663C= , CM000663.2:g.11845663C= GRCh38
NC_000001.10:g.11905720C= , CM000663.1:g.11905720C= GRCh37
NC_000001.9:g.11828307C= NCBI36
NG_012926.1:g.7121G= , LRG_751:g.7121G=

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1858C= (CLCN6) ENSP00000496938.1:n.*1858C=
ENST00000446542.5:n.678C= (NPPA-AS1)
NR_037806.1:n.1376C= (NPPA-AS1)