Canonical Allele Identifier: CA1143336017
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847382G= , CM000663.2:g.11847382G= GRCh38
NC_000001.10:g.11907439G= , CM000663.1:g.11907439G= GRCh37
NC_000001.9:g.11830026G= NCBI36
NG_012926.1:g.5402C= , LRG_751:g.5402C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-195G= (CLCN6) ENSP00000496938.1:n.*1962-195G=
ENST00000446542.5:n.782-52G= (NPPA-AS1)
ENST00000376476.1:c.31C= (NPPA) ENSP00000365659.1:p.Gln11=
ENST00000376480.7:c.181C= (NPPA) MANE Select ENSP00000365663.3:p.Gln61=
ENST00000610706.1:c.181C= (NPPA) ENSP00000483195.1:p.Gln61=
NM_006172.3:c.181C= , LRG_751t1:c.181C= (NPPA) NP_006163.1:p.Gln61=
NR_037806.1:n.1480-52G= (NPPA-AS1)
NM_006172.4:c.181C= (NPPA) MANE Select NP_006163.1:p.Gln61=
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