Canonical Allele Identifier: CA416107303
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11905791G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845734G>A , CM000663.2:g.11845734G>A GRCh38
NC_000001.10:g.11905791G>A , CM000663.1:g.11905791G>A GRCh37
NC_000001.9:g.11828378G>A NCBI36
NG_012926.1:g.7050C>T , LRG_751:g.7050C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1929G>A (CLCN6) ENSP00000496938.1:n.*1929G>A
ENST00000446542.5:n.749G>A (NPPA-AS1)
ENST00000376480.7:c.*275C>T (NPPA) MANE Select ENSP00000365663.3:n.*275C>T
ENST00000610706.1:c.*269C>T (NPPA) ENSP00000483195.1:n.*269C>T
NM_006172.3:c.*275C>T , LRG_751t1:c.*275C>T (NPPA) NP_006163.1:n.*275C>T
NR_037806.1:n.1447G>A (NPPA-AS1)
NM_006172.4:c.*275C>T (NPPA) MANE Select NP_006163.1:n.*275C>T
Search 100 bp 5'
Search 100 bp 3'