Canonical Allele Identifier: CA2163227

Gene: PDE6D

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231738096C>T , CM000664.2:g.231738096C>T	GRCh38
NC_000002.11:g.232602806C>T , CM000664.1:g.232602806C>T	GRCh37
NC_000002.10:g.232311050C>T	NCBI36
NG_034064.1:g.48232G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002601.4:c.182G>A MANE Select	NP_002592.1:p.Arg61Gln
ENST00000287600.9:c.182G>A MANE Select	ENSP00000287600.4:p.Arg61Gln
NM_001291018.1:c.182G>A	NP_001277947.1:p.Arg61Gln
NM_001291018.2:c.182G>A	NP_001277947.1:p.Arg61Gln
NM_002601.3:c.182G>A	NP_002592.1:p.Arg61Gln
ENST00000287600.8:c.182G>A	ENSP00000287600.4:p.Arg61Gln
ENST00000409772.5:c.182G>A	ENSP00000387108.1:p.Arg61Gln
ENST00000428104.2:c.125G>A	ENSP00000399098.2:p.Arg42Gln
ENST00000486044.1:n.331G>A
XM_011511342.1:c.125G>A	XP_011509644.1:p.Arg42Gln