Canonical Allele Identifier: CA416107427

Linked Data

MyVariant Identifiers: chr1:g.11906069G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846012G>A , CM000663.2:g.11846012G>A GRCh38
NC_000001.10:g.11906069G>A , CM000663.1:g.11906069G>A GRCh37
NC_000001.9:g.11828656G>A NCBI36
NG_012926.1:g.6772C>T , LRG_751:g.6772C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+246G>A (CLCN6) ENSP00000496938.1:n.*1961+246G>A
ENST00000446542.5:n.781+246G>A (NPPA-AS1)
ENST00000376476.1:c.303C>T (NPPA) ENSP00000365659.1:p.Tyr101=
ENST00000376480.7:c.453C>T (NPPA) MANE Select ENSP00000365663.3:p.Tyr151=
ENST00000610706.1:c.453C>T (NPPA) ENSP00000483195.1:p.Tyr151=
NM_006172.3:c.453C>T , LRG_751t1:c.453C>T (NPPA) NP_006163.1:p.Tyr151=
NR_037806.1:n.1479+246G>A (NPPA-AS1)
NM_006172.4:c.453C>T (NPPA) MANE Select NP_006163.1:p.Tyr151=