Canonical Allele Identifier: CA416106194
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11903958A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843901A>G , CM000663.2:g.11843901A>G GRCh38
NC_000001.10:g.11903958A>G , CM000663.1:g.11903958A>G GRCh37
NC_000001.9:g.11826545A>G NCBI36
NG_008766.1:g.42752A>G
NG_012926.1:g.8883T>C , LRG_751:g.8883T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1569A>G (CLCN6) ENSP00000496938.1:n.*1569A>G
ENST00000446542.5:n.389A>G (NPPA-AS1)
NR_037806.1:n.1087A>G (NPPA-AS1)
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