Canonical Allele Identifier: CA416362080

Linked Data

MyVariant Identifiers: chr1:g.11907335A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847278A>T , CM000663.2:g.11847278A>T GRCh38
NC_000001.10:g.11907335A>T , CM000663.1:g.11907335A>T GRCh37
NC_000001.9:g.11829922A>T NCBI36
NG_012926.1:g.5506T>A , LRG_751:g.5506T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-299A>T (CLCN6) ENSP00000496938.1:n.*1962-299A>T
ENST00000446542.5:n.782-156A>T (NPPA-AS1)
ENST00000376476.1:c.135T>A (NPPA) ENSP00000365659.1:p.Gly45=
ENST00000376480.7:c.285T>A (NPPA) MANE Select ENSP00000365663.3:p.Gly95=
ENST00000610706.1:c.285T>A (NPPA) ENSP00000483195.1:p.Gly95=
NM_006172.3:c.285T>A , LRG_751t1:c.285T>A (NPPA) NP_006163.1:p.Gly95=
NR_037806.1:n.1480-156A>T (NPPA-AS1)
NM_006172.4:c.285T>A (NPPA) MANE Select NP_006163.1:p.Gly95=