Canonical Allele Identifier: CA1141927959
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847660C= , CM000663.2:g.11847660C= GRCh38
NC_000001.10:g.11907717C= , CM000663.1:g.11907717C= GRCh37
NC_000001.9:g.11830304C= NCBI36
NG_012926.1:g.5124G= , LRG_751:g.5124G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2045C= (CLCN6) ENSP00000496938.1:n.*2045C=
ENST00000446542.5:n.1008C= (NPPA-AS1)
ENST00000376476.1:c.-27-221G= (NPPA) ENSP00000365659.1:n.-27-221G=
ENST00000376480.7:c.25G= (NPPA) MANE Select ENSP00000365663.3:p.Val9=
ENST00000610706.1:c.25G= (NPPA) ENSP00000483195.1:p.Val9=
NM_006172.3:c.25G= , LRG_751t1:c.25G= (NPPA) NP_006163.1:p.Val9=
NM_006172.4:c.25G= (NPPA) MANE Select NP_006163.1:p.Val9=
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