Canonical Allele Identifier: CA384024165
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs746033819

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978137G>C , CM000674.2:g.14978137G>C GRCh38
NC_000012.11:g.15131071G>C , CM000674.1:g.15131071G>C GRCh37
NC_000012.10:g.15022338G>C NCBI36
NG_016859.1:g.10116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.125G>C MANE Select ENSP00000266395.2:p.Gly42Ala
ENST00000266395.2:c.125G>C ENSP00000266395.2:p.Gly42Ala
NM_006205.2:c.125G>C NP_006196.1:p.Gly42Ala
XR_931376.1:n.175+11350C>G
XM_017019431.2:c.125G>C XP_016874920.1:p.Gly42Ala
XR_931376.2:n.389+11350C>G
NM_006205.3:c.125G>C MANE Select NP_006196.1:p.Gly42Ala