Canonical Allele Identifier: CA2163228

Gene: PDE6D

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231738097G>A , CM000664.2:g.231738097G>A	GRCh38
NC_000002.11:g.232602807G>A , CM000664.1:g.232602807G>A	GRCh37
NC_000002.10:g.232311051G>A	NCBI36
NG_034064.1:g.48231C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002601.4:c.181C>T MANE Select	NP_002592.1:p.Arg61Ter
ENST00000287600.9:c.181C>T MANE Select	ENSP00000287600.4:p.Arg61Ter
NM_001291018.1:c.181C>T	NP_001277947.1:p.Arg61Ter
NM_001291018.2:c.181C>T	NP_001277947.1:p.Arg61Ter
NM_002601.3:c.181C>T	NP_002592.1:p.Arg61Ter
ENST00000287600.8:c.181C>T	ENSP00000287600.4:p.Arg61Ter
ENST00000409772.5:c.181C>T	ENSP00000387108.1:p.Arg61Ter
ENST00000428104.2:c.124C>T	ENSP00000399098.2:p.Arg42Ter
ENST00000486044.1:n.330C>T
XM_011511342.1:c.124C>T	XP_011509644.1:p.Arg42Ter