Canonical Allele Identifier: CA886104608

Linked Data

dbSNP Id: rs5068
gnomAD v4: 1-11845917-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845917A>T , CM000663.2:g.11845917A>T GRCh38
NC_000001.10:g.11905974A>T , CM000663.1:g.11905974A>T GRCh37
NC_000001.9:g.11828561A>T NCBI36
NG_012926.1:g.6867T>A , LRG_751:g.6867T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+151A>T (CLCN6) ENSP00000496938.1:n.*1961+151A>T
ENST00000446542.5:n.781+151A>T (NPPA-AS1)
ENST00000376476.1:c.*92T>A (NPPA) ENSP00000365659.1:n.*92T>A
ENST00000376480.7:c.*92T>A (NPPA) MANE Select ENSP00000365663.3:n.*92T>A
ENST00000610706.1:c.*86T>A (NPPA) ENSP00000483195.1:n.*86T>A
NM_006172.3:c.*92T>A , LRG_751t1:c.*92T>A (NPPA) NP_006163.1:n.*92T>A
NR_037806.1:n.1479+151A>T (NPPA-AS1)
NM_006172.4:c.*92T>A (NPPA) MANE Select NP_006163.1:n.*92T>A