Canonical Allele Identifier: CA521195595

Linked Data

dbSNP Id: rs1374878488
gnomAD v2: 1-11906035-C-T
gnomAD v4: 1-11845978-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845978C>T , CM000663.2:g.11845978C>T GRCh38
NC_000001.10:g.11906035C>T , CM000663.1:g.11906035C>T GRCh37
NC_000001.9:g.11828622C>T NCBI36
NG_012926.1:g.6806G>A , LRG_751:g.6806G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+212C>T (CLCN6) ENSP00000496938.1:n.*1961+212C>T
ENST00000446542.5:n.781+212C>T (NPPA-AS1)
ENST00000376476.1:c.*31G>A (NPPA) ENSP00000365659.1:n.*31G>A
ENST00000376480.7:c.*31G>A (NPPA) MANE Select ENSP00000365663.3:n.*31G>A
ENST00000610706.1:c.*25G>A (NPPA) ENSP00000483195.1:n.*25G>A
NM_006172.3:c.*31G>A , LRG_751t1:c.*31G>A (NPPA) NP_006163.1:n.*31G>A
NR_037806.1:n.1479+212C>T (NPPA-AS1)
NM_006172.4:c.*31G>A (NPPA) MANE Select NP_006163.1:n.*31G>A