Canonical Allele Identifier: CA2643311541
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

gnomAD v4: 1-11847052-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847052T>C , CM000663.2:g.11847052T>C GRCh38
NC_000001.10:g.11907109T>C , CM000663.1:g.11907109T>C GRCh37
NC_000001.9:g.11829696T>C NCBI36
NG_012926.1:g.5732A>G , LRG_751:g.5732A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-525T>C (CLCN6) ENSP00000496938.1:n.*1962-525T>C
ENST00000446542.5:n.782-382T>C (NPPA-AS1)
ENST00000376476.1:c.300+61A>G (NPPA) ENSP00000365659.1:n.300+61A>G
ENST00000376480.7:c.450+61A>G (NPPA) MANE Select ENSP00000365663.3:n.450+61A>G
ENST00000610706.1:c.450+61A>G (NPPA) ENSP00000483195.1:n.450+61A>G
NM_006172.3:c.450+61A>G , LRG_751t1:c.450+61A>G (NPPA) NP_006163.1:n.450+61A>G
NR_037806.1:n.1480-382T>C (NPPA-AS1)
NM_006172.4:c.450+61A>G (NPPA) MANE Select NP_006163.1:n.450+61A>G
Search 100 bp 5'
Search 100 bp 3'