Canonical Allele Identifier: CA1143470468

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847367G= , CM000663.2:g.11847367G= GRCh38
NC_000001.10:g.11907424G= , CM000663.1:g.11907424G= GRCh37
NC_000001.9:g.11830011G= NCBI36
NG_012926.1:g.5417C= , LRG_751:g.5417C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-210G= (CLCN6) ENSP00000496938.1:n.*1962-210G=
ENST00000446542.5:n.782-67G= (NPPA-AS1)
ENST00000376476.1:c.46C= (NPPA) ENSP00000365659.1:p.Pro16=
ENST00000376480.7:c.196C= (NPPA) MANE Select ENSP00000365663.3:p.Pro66=
ENST00000610706.1:c.196C= (NPPA) ENSP00000483195.1:p.Pro66=
NM_006172.3:c.196C= , LRG_751t1:c.196C= (NPPA) NP_006163.1:p.Pro66=
NR_037806.1:n.1480-67G= (NPPA-AS1)
NM_006172.4:c.196C= (NPPA) MANE Select NP_006163.1:p.Pro66=