Canonical Allele Identifier: CA338450286

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847276G>T , CM000663.2:g.11847276G>T GRCh38
NC_000001.10:g.11907333G>T , CM000663.1:g.11907333G>T GRCh37
NC_000001.9:g.11829920G>T NCBI36
NG_012926.1:g.5508C>A , LRG_751:g.5508C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-301G>T (CLCN6) ENSP00000496938.1:n.*1962-301G>T
ENST00000446542.5:n.782-158G>T (NPPA-AS1)
ENST00000376476.1:c.137C>A (NPPA) ENSP00000365659.1:p.Ala46Asp
ENST00000376480.7:c.287C>A (NPPA) MANE Select ENSP00000365663.3:p.Ala96Asp
ENST00000610706.1:c.287C>A (NPPA) ENSP00000483195.1:p.Ala96Asp
NM_006172.3:c.287C>A , LRG_751t1:c.287C>A (NPPA) NP_006163.1:p.Ala96Asp
NR_037806.1:n.1480-158G>T (NPPA-AS1)
NM_006172.4:c.287C>A (NPPA) MANE Select NP_006163.1:p.Ala96Asp