Canonical Allele Identifier: CA2742482426

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846115C>A , CM000663.2:g.11846115C>A	GRCh38
NC_000001.10:g.11906172C>A , CM000663.1:g.11906172C>A	GRCh37
NC_000001.9:g.11828759C>A	NCBI36
NG_012926.1:g.6669G>T , LRG_751:g.6669G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+349C>A (CLCN6)	ENSP00000496938.1:n.*1961+349C>A
ENST00000446542.5:n.781+349C>A (NPPA-AS1)
ENST00000376476.1:c.301-101G>T (NPPA)	ENSP00000365659.1:n.301-101G>T
ENST00000376480.7:c.451-101G>T (NPPA) MANE Select	ENSP00000365663.3:n.451-101G>T
ENST00000610706.1:c.451-101G>T (NPPA)	ENSP00000483195.1:n.451-101G>T
NM_006172.3:c.451-101G>T , LRG_751t1:c.451-101G>T (NPPA)	NP_006163.1:n.451-101G>T
NR_037806.1:n.1479+349C>A (NPPA-AS1)
NM_006172.4:c.451-101G>T (NPPA) MANE Select	NP_006163.1:n.451-101G>T