Canonical Allele Identifier: CA338451346
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11907450A>T (hg19) chr1:g.11847393A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847393A>T , CM000663.2:g.11847393A>T GRCh38
NC_000001.10:g.11907450A>T , CM000663.1:g.11907450A>T GRCh37
NC_000001.9:g.11830037A>T NCBI36
NG_012926.1:g.5391T>A , LRG_751:g.5391T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-184A>T (CLCN6) ENSP00000496938.1:n.*1962-184A>T
ENST00000446542.5:n.782-41A>T (NPPA-AS1)
ENST00000376476.1:c.20T>A (NPPA) ENSP00000365659.1:p.Val7Asp
ENST00000376480.7:c.170T>A (NPPA) MANE Select ENSP00000365663.3:p.Val57Asp
ENST00000610706.1:c.170T>A (NPPA) ENSP00000483195.1:p.Val57Asp
NM_006172.3:c.170T>A , LRG_751t1:c.170T>A (NPPA) NP_006163.1:p.Val57Asp
NR_037806.1:n.1480-41A>T (NPPA-AS1)
NM_006172.4:c.170T>A (NPPA) MANE Select NP_006163.1:p.Val57Asp
Search 100 bp 5'
Search 100 bp 3'