Canonical Allele Identifier: CA338452015
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1645079288
MyVariant Identifiers: chr1:g.11907708G>A (hg19) chr1:g.11847651G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847651G>A , CM000663.2:g.11847651G>A GRCh38
NC_000001.10:g.11907708G>A , CM000663.1:g.11907708G>A GRCh37
NC_000001.9:g.11830295G>A NCBI36
NG_012926.1:g.5133C>T , LRG_751:g.5133C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2036G>A (CLCN6) ENSP00000496938.1:n.*2036G>A
ENST00000446542.5:n.999G>A (NPPA-AS1)
ENST00000376476.1:c.-27-212C>T (NPPA) ENSP00000365659.1:n.-27-212C>T
ENST00000376480.7:c.34C>T (NPPA) MANE Select ENSP00000365663.3:p.Leu12Phe
ENST00000610706.1:c.34C>T (NPPA) ENSP00000483195.1:p.Leu12Phe
NM_006172.3:c.34C>T , LRG_751t1:c.34C>T (NPPA) NP_006163.1:p.Leu12Phe
NM_006172.4:c.34C>T (NPPA) MANE Select NP_006163.1:p.Leu12Phe
Search 100 bp 5'
Search 100 bp 3'