Canonical Allele Identifier: CA1153814248

Gene: CLCN6 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847703C= , CM000663.2:g.11847703C=	GRCh38
NC_000001.10:g.11907760C= , CM000663.1:g.11907760C=	GRCh37
NC_000001.9:g.11830347C=	NCBI36
NG_012926.1:g.5081G= , LRG_751:g.5081G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2088C= (CLCN6)	ENSP00000496938.1:n.*2088C=
ENST00000376476.1:c.-27-264G= (NPPA)	ENSP00000365659.1:n.-27-264G=
ENST00000376480.7:c.-19G= (NPPA) MANE Select	ENSP00000365663.3:n.-19G=
ENST00000610706.1:c.-19G= (NPPA)	ENSP00000483195.1:n.-19G=
NM_006172.3:c.-19G= , LRG_751t1:c.-19G= (NPPA)	NP_006163.1:n.-19G=
NM_006172.4:c.-19G= (NPPA) MANE Select	NP_006163.1:n.-19G=