Canonical Allele Identifier: CA384024096
Gene: PDE6H HGNC NCBI

Linked Data

ClinVar Variation Id: 2015800
ClinVar RCV Id: RCV002843581

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978124C>A , CM000674.2:g.14978124C>A GRCh38
NC_000012.11:g.15131058C>A , CM000674.1:g.15131058C>A GRCh37
NC_000012.10:g.15022325C>A NCBI36
NG_016859.1:g.10103C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.112C>A MANE Select ENSP00000266395.2:p.Pro38Thr
ENST00000266395.2:c.112C>A ENSP00000266395.2:p.Pro38Thr
NM_006205.2:c.112C>A NP_006196.1:p.Pro38Thr
XR_931376.1:n.175+11363G>T
XM_017019431.2:c.112C>A XP_016874920.1:p.Pro38Thr
XR_931376.2:n.389+11363G>T
NM_006205.3:c.112C>A MANE Select NP_006196.1:p.Pro38Thr