Canonical Allele Identifier: CA338449484
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11907264A>C (hg19) chr1:g.11847207A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847207A>C , CM000663.2:g.11847207A>C GRCh38
NC_000001.10:g.11907264A>C , CM000663.1:g.11907264A>C GRCh37
NC_000001.9:g.11829851A>C NCBI36
NG_012926.1:g.5577T>G , LRG_751:g.5577T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-370A>C (CLCN6) ENSP00000496938.1:n.*1962-370A>C
ENST00000446542.5:n.782-227A>C (NPPA-AS1)
ENST00000376476.1:c.206T>G (NPPA) ENSP00000365659.1:p.Leu69Arg
ENST00000376480.7:c.356T>G (NPPA) MANE Select ENSP00000365663.3:p.Leu119Arg
ENST00000610706.1:c.356T>G (NPPA) ENSP00000483195.1:p.Leu119Arg
NM_006172.3:c.356T>G , LRG_751t1:c.356T>G (NPPA) NP_006163.1:p.Leu119Arg
NR_037806.1:n.1480-227A>C (NPPA-AS1)
NM_006172.4:c.356T>G (NPPA) MANE Select NP_006163.1:p.Leu119Arg
Search 100 bp 5'
Search 100 bp 3'