Canonical Allele Identifier: CA338451362

Linked Data

gnomAD v4: 1-11847397-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847397C>T , CM000663.2:g.11847397C>T GRCh38
NC_000001.10:g.11907454C>T , CM000663.1:g.11907454C>T GRCh37
NC_000001.9:g.11830041C>T NCBI36
NG_012926.1:g.5387G>A , LRG_751:g.5387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-180C>T (CLCN6) ENSP00000496938.1:n.*1962-180C>T
ENST00000446542.5:n.782-37C>T (NPPA-AS1)
ENST00000376476.1:c.16G>A (NPPA) ENSP00000365659.1:p.Glu6Lys
ENST00000376480.7:c.166G>A (NPPA) MANE Select ENSP00000365663.3:p.Glu56Lys
ENST00000610706.1:c.166G>A (NPPA) ENSP00000483195.1:p.Glu56Lys
NM_006172.3:c.166G>A , LRG_751t1:c.166G>A (NPPA) NP_006163.1:p.Glu56Lys
NR_037806.1:n.1480-37C>T (NPPA-AS1)
NM_006172.4:c.166G>A (NPPA) MANE Select NP_006163.1:p.Glu56Lys