Canonical Allele Identifier: CA338448344

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846005A>T , CM000663.2:g.11846005A>T GRCh38
NC_000001.10:g.11906062A>T , CM000663.1:g.11906062A>T GRCh37
NC_000001.9:g.11828649A>T NCBI36
NG_012926.1:g.6779T>A , LRG_751:g.6779T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+239A>T (CLCN6) ENSP00000496938.1:n.*1961+239A>T
ENST00000446542.5:n.781+239A>T (NPPA-AS1)
ENST00000376476.1:c.*4T>A (NPPA) ENSP00000365659.1:n.*4T>A
ENST00000376480.7:c.*4T>A (NPPA) MANE Select ENSP00000365663.3:n.*4T>A
ENST00000610706.1:c.457T>A (NPPA) ENSP00000483195.1:p.Ter153Lys
NM_006172.3:c.*4T>A , LRG_751t1:c.*4T>A (NPPA) NP_006163.1:n.*4T>A
NR_037806.1:n.1479+239A>T (NPPA-AS1)
NM_006172.4:c.*4T>A (NPPA) MANE Select NP_006163.1:n.*4T>A