Canonical Allele Identifier: CA1153832431
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847383T= , CM000663.2:g.11847383T= GRCh38
NC_000001.10:g.11907440T= , CM000663.1:g.11907440T= GRCh37
NC_000001.9:g.11830027T= NCBI36
NG_012926.1:g.5401A= , LRG_751:g.5401A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-194T= (CLCN6) ENSP00000496938.1:n.*1962-194T=
ENST00000446542.5:n.782-51T= (NPPA-AS1)
ENST00000376476.1:c.30A= (NPPA) ENSP00000365659.1:p.Pro10=
ENST00000376480.7:c.180A= (NPPA) MANE Select ENSP00000365663.3:p.Pro60=
ENST00000610706.1:c.180A= (NPPA) ENSP00000483195.1:p.Pro60=
NM_006172.3:c.180A= , LRG_751t1:c.180A= (NPPA) NP_006163.1:p.Pro60=
NR_037806.1:n.1480-51T= (NPPA-AS1)
NM_006172.4:c.180A= (NPPA) MANE Select NP_006163.1:p.Pro60=
Search 100 bp 5'
Search 100 bp 3'