Canonical Allele Identifier: CA338450236
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1237327034
gnomAD v4: 1-11847270-C-T
MyVariant Identifiers: chr1:g.11907327C>T (hg19) chr1:g.11847270C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847270C>T , CM000663.2:g.11847270C>T GRCh38
NC_000001.10:g.11907327C>T , CM000663.1:g.11907327C>T GRCh37
NC_000001.9:g.11829914C>T NCBI36
NG_012926.1:g.5514G>A , LRG_751:g.5514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-307C>T (CLCN6) ENSP00000496938.1:n.*1962-307C>T
ENST00000446542.5:n.782-164C>T (NPPA-AS1)
ENST00000376476.1:c.143G>A (NPPA) ENSP00000365659.1:p.Gly48Glu
ENST00000376480.7:c.293G>A (NPPA) MANE Select ENSP00000365663.3:p.Gly98Glu
ENST00000610706.1:c.293G>A (NPPA) ENSP00000483195.1:p.Gly98Glu
NM_006172.3:c.293G>A , LRG_751t1:c.293G>A (NPPA) NP_006163.1:p.Gly98Glu
NR_037806.1:n.1480-164C>T (NPPA-AS1)
NM_006172.4:c.293G>A (NPPA) MANE Select NP_006163.1:p.Gly98Glu
Search 100 bp 5'
Search 100 bp 3'