Canonical Allele Identifier: CA1153831771
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847084A= , CM000663.2:g.11847084A= GRCh38
NC_000001.10:g.11907141A= , CM000663.1:g.11907141A= GRCh37
NC_000001.9:g.11829728A= NCBI36
NG_012926.1:g.5700T= , LRG_751:g.5700T=

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-493A= (CLCN6) ENSP00000496938.1:n.*1962-493A=
ENST00000446542.5:n.782-350A= (NPPA-AS1)
ENST00000376476.1:c.300+29T= (NPPA) ENSP00000365659.1:n.300+29T=
ENST00000376480.7:c.450+29T= (NPPA) MANE Select ENSP00000365663.3:n.450+29T=
ENST00000610706.1:c.450+29T= (NPPA) ENSP00000483195.1:n.450+29T=
NM_006172.3:c.450+29T= , LRG_751t1:c.450+29T= (NPPA) NP_006163.1:n.450+29T=
NR_037806.1:n.1480-350A= (NPPA-AS1)
NM_006172.4:c.450+29T= (NPPA) MANE Select NP_006163.1:n.450+29T=
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