Canonical Allele Identifier: CA1140803859

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847213G= , CM000663.2:g.11847213G=	GRCh38
NC_000001.10:g.11907270G= , CM000663.1:g.11907270G=	GRCh37
NC_000001.9:g.11829857G=	NCBI36
NG_012926.1:g.5571C= , LRG_751:g.5571C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-364G= (CLCN6)	ENSP00000496938.1:n.*1962-364G=
ENST00000446542.5:n.782-221G= (NPPA-AS1)
ENST00000376476.1:c.200C= (NPPA)	ENSP00000365659.1:p.Ala67=
ENST00000376480.7:c.350C= (NPPA) MANE Select	ENSP00000365663.3:p.Ala117=
ENST00000610706.1:c.350C= (NPPA)	ENSP00000483195.1:p.Ala117=
NM_006172.3:c.350C= , LRG_751t1:c.350C= (NPPA)	NP_006163.1:p.Ala117=
NR_037806.1:n.1480-221G= (NPPA-AS1)
NM_006172.4:c.350C= (NPPA) MANE Select	NP_006163.1:p.Ala117=