Canonical Allele Identifier: CA338450288

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847277C>A , CM000663.2:g.11847277C>A GRCh38
NC_000001.10:g.11907334C>A , CM000663.1:g.11907334C>A GRCh37
NC_000001.9:g.11829921C>A NCBI36
NG_012926.1:g.5507G>T , LRG_751:g.5507G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-300C>A (CLCN6) ENSP00000496938.1:n.*1962-300C>A
ENST00000446542.5:n.782-157C>A (NPPA-AS1)
ENST00000376476.1:c.136G>T (NPPA) ENSP00000365659.1:p.Ala46Ser
ENST00000376480.7:c.286G>T (NPPA) MANE Select ENSP00000365663.3:p.Ala96Ser
ENST00000610706.1:c.286G>T (NPPA) ENSP00000483195.1:p.Ala96Ser
NM_006172.3:c.286G>T , LRG_751t1:c.286G>T (NPPA) NP_006163.1:p.Ala96Ser
NR_037806.1:n.1480-157C>A (NPPA-AS1)
NM_006172.4:c.286G>T (NPPA) MANE Select NP_006163.1:p.Ala96Ser