Canonical Allele Identifier: CA416105873
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11903853T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843796T>G , CM000663.2:g.11843796T>G GRCh38
NC_000001.10:g.11903853T>G , CM000663.1:g.11903853T>G GRCh37
NC_000001.9:g.11826440T>G NCBI36
NG_008766.1:g.42647T>G
NG_012926.1:g.8988A>C , LRG_751:g.8988A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1464T>G (CLCN6) ENSP00000496938.1:n.*1464T>G
ENST00000446542.5:n.284T>G (NPPA-AS1)
NR_037806.1:n.982T>G (NPPA-AS1)
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