Canonical Allele Identifier: CA1153832486

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847404T= , CM000663.2:g.11847404T=	GRCh38
NC_000001.10:g.11907461T= , CM000663.1:g.11907461T=	GRCh37
NC_000001.9:g.11830048T=	NCBI36
NG_012926.1:g.5380A= , LRG_751:g.5380A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-173T= (CLCN6)	ENSP00000496938.1:n.*1962-173T=
ENST00000446542.5:n.782-30T= (NPPA-AS1)
ENST00000376476.1:c.9A= (NPPA)	ENSP00000365659.1:p.Leu3=
ENST00000376480.7:c.159A= (NPPA) MANE Select	ENSP00000365663.3:p.Leu53=
ENST00000610706.1:c.159A= (NPPA)	ENSP00000483195.1:p.Leu53=
NM_006172.3:c.159A= , LRG_751t1:c.159A= (NPPA)	NP_006163.1:p.Leu53=
NR_037806.1:n.1480-30T= (NPPA-AS1)
NM_006172.4:c.159A= (NPPA) MANE Select	NP_006163.1:p.Leu53=