Canonical Allele Identifier: CA338450589
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11907362T>G (hg19) chr1:g.11847305T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847305T>G , CM000663.2:g.11847305T>G GRCh38
NC_000001.10:g.11907362T>G , CM000663.1:g.11907362T>G GRCh37
NC_000001.9:g.11829949T>G NCBI36
NG_012926.1:g.5479A>C , LRG_751:g.5479A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-272T>G (CLCN6) ENSP00000496938.1:n.*1962-272T>G
ENST00000446542.5:n.782-129T>G (NPPA-AS1)
ENST00000376476.1:c.108A>C (NPPA) ENSP00000365659.1:p.Glu36Asp
ENST00000376480.7:c.258A>C (NPPA) MANE Select ENSP00000365663.3:p.Glu86Asp
ENST00000610706.1:c.258A>C (NPPA) ENSP00000483195.1:p.Glu86Asp
NM_006172.3:c.258A>C , LRG_751t1:c.258A>C (NPPA) NP_006163.1:p.Glu86Asp
NR_037806.1:n.1480-129T>G (NPPA-AS1)
NM_006172.4:c.258A>C (NPPA) MANE Select NP_006163.1:p.Glu86Asp
Search 100 bp 5'
Search 100 bp 3'