Canonical Allele Identifier: CA1140727906
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845815A= , CM000663.2:g.11845815A= GRCh38
NC_000001.10:g.11905872A= , CM000663.1:g.11905872A= GRCh37
NC_000001.9:g.11828459A= NCBI36
NG_012926.1:g.6969T= , LRG_751:g.6969T=

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+49A= (CLCN6) ENSP00000496938.1:n.*1961+49A=
ENST00000446542.5:n.781+49A= (NPPA-AS1)
ENST00000376480.7:c.*194T= (NPPA) MANE Select ENSP00000365663.3:n.*194T=
ENST00000610706.1:c.*188T= (NPPA) ENSP00000483195.1:n.*188T=
NM_006172.3:c.*194T= , LRG_751t1:c.*194T= (NPPA) NP_006163.1:n.*194T=
NR_037806.1:n.1479+49A= (NPPA-AS1)
NM_006172.4:c.*194T= (NPPA) MANE Select NP_006163.1:n.*194T=
Search 100 bp 5'
Search 100 bp 3'