Canonical Allele Identifier: CA1153832122

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847244G= , CM000663.2:g.11847244G= GRCh38
NC_000001.10:g.11907301G= , CM000663.1:g.11907301G= GRCh37
NC_000001.9:g.11829888G= NCBI36
NG_012926.1:g.5540C= , LRG_751:g.5540C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-333G= (CLCN6) ENSP00000496938.1:n.*1962-333G=
ENST00000446542.5:n.782-190G= (NPPA-AS1)
ENST00000376476.1:c.169C= (NPPA) ENSP00000365659.1:p.Arg57=
ENST00000376480.7:c.319C= (NPPA) MANE Select ENSP00000365663.3:p.Arg107=
ENST00000610706.1:c.319C= (NPPA) ENSP00000483195.1:p.Arg107=
NM_006172.3:c.319C= , LRG_751t1:c.319C= (NPPA) NP_006163.1:p.Arg107=
NR_037806.1:n.1480-190G= (NPPA-AS1)
NM_006172.4:c.319C= (NPPA) MANE Select NP_006163.1:p.Arg107=