Canonical Allele Identifier: CA2742482071

Gene: CLCN6 NPPA-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843471C>A , CM000663.2:g.11843471C>A	GRCh38
NC_000001.10:g.11903528C>A , CM000663.1:g.11903528C>A	GRCh37
NC_000001.9:g.11826115C>A	NCBI36
NG_008766.1:g.42322C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1402-263C>A (CLCN6)	ENSP00000496938.1:n.*1402-263C>A
ENST00000446542.5:n.192-233C>A (NPPA-AS1)
NR_037806.1:n.890-233C>A (NPPA-AS1)