Canonical Allele Identifier: CA2575088691

Gene: PDE6H

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14977944T>A , CM000674.2:g.14977944T>A	GRCh38
NC_000012.11:g.15130878T>A , CM000674.1:g.15130878T>A	GRCh37
NC_000012.10:g.15022145T>A	NCBI36
NG_016859.1:g.9923T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.-41-28T>A MANE Select	ENSP00000266395.2:n.-41-28T>A
ENST00000266395.2:c.-41-28T>A	ENSP00000266395.2:n.-41-28T>A
NM_006205.2:c.-41-28T>A	NP_006196.1:n.-41-28T>A
XR_931376.1:n.175+11543A>T
XM_017019431.2:c.-69T>A	XP_016874920.1:n.-69T>A
XR_931376.2:n.389+11543A>T
NM_006205.3:c.-41-28T>A MANE Select	NP_006196.1:n.-41-28T>A