Canonical Allele Identifier: CA416107298
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11905790A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845733A>C , CM000663.2:g.11845733A>C GRCh38
NC_000001.10:g.11905790A>C , CM000663.1:g.11905790A>C GRCh37
NC_000001.9:g.11828377A>C NCBI36
NG_012926.1:g.7051T>G , LRG_751:g.7051T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1928A>C (CLCN6) ENSP00000496938.1:n.*1928A>C
ENST00000446542.5:n.748A>C (NPPA-AS1)
ENST00000376480.7:c.*276T>G (NPPA) MANE Select ENSP00000365663.3:n.*276T>G
ENST00000610706.1:c.*270T>G (NPPA) ENSP00000483195.1:n.*270T>G
NM_006172.3:c.*276T>G , LRG_751t1:c.*276T>G (NPPA) NP_006163.1:n.*276T>G
NR_037806.1:n.1446A>C (NPPA-AS1)
NM_006172.4:c.*276T>G (NPPA) MANE Select NP_006163.1:n.*276T>G
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