Canonical Allele Identifier: CA338452076

Linked Data

COSMIC: COSM894618

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847669T>A , CM000663.2:g.11847669T>A GRCh38
NC_000001.10:g.11907726T>A , CM000663.1:g.11907726T>A GRCh37
NC_000001.9:g.11830313T>A NCBI36
NG_012926.1:g.5115A>T , LRG_751:g.5115A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2054T>A (CLCN6) ENSP00000496938.1:n.*2054T>A
ENST00000446542.5:n.1017T>A (NPPA-AS1)
ENST00000376476.1:c.-27-230A>T (NPPA) ENSP00000365659.1:n.-27-230A>T
ENST00000376480.7:c.16A>T (NPPA) MANE Select ENSP00000365663.3:p.Thr6Ser
ENST00000610706.1:c.16A>T (NPPA) ENSP00000483195.1:p.Thr6Ser
NM_006172.3:c.16A>T , LRG_751t1:c.16A>T (NPPA) NP_006163.1:p.Thr6Ser
NM_006172.4:c.16A>T (NPPA) MANE Select NP_006163.1:p.Thr6Ser