Canonical Allele Identifier: CA384024160
Gene: PDE6H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978136G>C , CM000674.2:g.14978136G>C GRCh38
NC_000012.11:g.15131070G>C , CM000674.1:g.15131070G>C GRCh37
NC_000012.10:g.15022337G>C NCBI36
NG_016859.1:g.10115G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.124G>C MANE Select ENSP00000266395.2:p.Gly42Arg
ENST00000266395.2:c.124G>C ENSP00000266395.2:p.Gly42Arg
NM_006205.2:c.124G>C NP_006196.1:p.Gly42Arg
XR_931376.1:n.175+11351C>G
XM_017019431.2:c.124G>C XP_016874920.1:p.Gly42Arg
XR_931376.2:n.389+11351C>G
NM_006205.3:c.124G>C MANE Select NP_006196.1:p.Gly42Arg