Canonical Allele Identifier: CA1143555520
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847638G= , CM000663.2:g.11847638G= GRCh38
NC_000001.10:g.11907695G= , CM000663.1:g.11907695G= GRCh37
NC_000001.9:g.11830282G= NCBI36
NG_012926.1:g.5146C= , LRG_751:g.5146C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2023G= (CLCN6) ENSP00000496938.1:n.*2023G=
ENST00000446542.5:n.986G= (NPPA-AS1)
ENST00000376476.1:c.-27-199C= (NPPA) ENSP00000365659.1:n.-27-199C=
ENST00000376480.7:c.47C= (NPPA) MANE Select ENSP00000365663.3:p.Ala16=
ENST00000610706.1:c.47C= (NPPA) ENSP00000483195.1:p.Ala16=
NM_006172.3:c.47C= , LRG_751t1:c.47C= (NPPA) NP_006163.1:p.Ala16=
NM_006172.4:c.47C= (NPPA) MANE Select NP_006163.1:p.Ala16=
Search 100 bp 5'
Search 100 bp 3'