Canonical Allele Identifier: CA1153831718
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847045C= , CM000663.2:g.11847045C= GRCh38
NC_000001.10:g.11907102C= , CM000663.1:g.11907102C= GRCh37
NC_000001.9:g.11829689C= NCBI36
NG_012926.1:g.5739G= , LRG_751:g.5739G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-532C= (CLCN6) ENSP00000496938.1:n.*1962-532C=
ENST00000446542.5:n.782-389C= (NPPA-AS1)
ENST00000376476.1:c.300+68G= (NPPA) ENSP00000365659.1:n.300+68G=
ENST00000376480.7:c.450+68G= (NPPA) MANE Select ENSP00000365663.3:n.450+68G=
ENST00000610706.1:c.450+68G= (NPPA) ENSP00000483195.1:n.450+68G=
NM_006172.3:c.450+68G= , LRG_751t1:c.450+68G= (NPPA) NP_006163.1:n.450+68G=
NR_037806.1:n.1480-389C= (NPPA-AS1)
NM_006172.4:c.450+68G= (NPPA) MANE Select NP_006163.1:n.450+68G=
Search 100 bp 5'
Search 100 bp 3'