Canonical Allele Identifier: CA338448687
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847124T>A , CM000663.2:g.11847124T>A GRCh38
NC_000001.10:g.11907181T>A , CM000663.1:g.11907181T>A GRCh37
NC_000001.9:g.11829768T>A NCBI36
NG_012926.1:g.5660A>T , LRG_751:g.5660A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-453T>A (CLCN6) ENSP00000496938.1:n.*1962-453T>A
ENST00000446542.5:n.782-310T>A (NPPA-AS1)
ENST00000376476.1:c.289A>T (NPPA) ENSP00000365659.1:p.Asn97Tyr
ENST00000376480.7:c.439A>T (NPPA) MANE Select ENSP00000365663.3:p.Asn147Tyr
ENST00000610706.1:c.439A>T (NPPA) ENSP00000483195.1:p.Asn147Tyr
NM_006172.3:c.439A>T , LRG_751t1:c.439A>T (NPPA) NP_006163.1:p.Asn147Tyr
NR_037806.1:n.1480-310T>A (NPPA-AS1)
NM_006172.4:c.439A>T (NPPA) MANE Select NP_006163.1:p.Asn147Tyr