Canonical Allele Identifier: CA130125
Gene: PDE6H HGNC NCBI

Linked Data

ClinVar Variation Id: 37245
dbSNP Id: rs200311463

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978047C>G , CM000674.2:g.14978047C>G GRCh38
NC_000012.11:g.15130981C>G , CM000674.1:g.15130981C>G GRCh37
NC_000012.10:g.15022248C>G NCBI36
NG_016859.1:g.10026C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.35C>G MANE Select ENSP00000266395.2:p.Ser12Ter
ENST00000266395.2:c.35C>G ENSP00000266395.2:p.Ser12Ter
NM_006205.2:c.35C>G NP_006196.1:p.Ser12Ter
XR_931376.1:n.175+11440G>C
XM_017019431.2:c.35C>G XP_016874920.1:p.Ser12Ter
XR_931376.2:n.389+11440G>C
NM_006205.3:c.35C>G MANE Select NP_006196.1:p.Ser12Ter