Canonical Allele Identifier: CA2575088701

Gene: PDE6H

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978175C>T , CM000674.2:g.14978175C>T	GRCh38
NC_000012.11:g.15131109C>T , CM000674.1:g.15131109C>T	GRCh37
NC_000012.10:g.15022376C>T	NCBI36
NG_016859.1:g.10154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.134+29C>T MANE Select	ENSP00000266395.2:n.134+29C>T
ENST00000266395.2:c.134+29C>T	ENSP00000266395.2:n.134+29C>T
NM_006205.2:c.134+29C>T	NP_006196.1:n.134+29C>T
XR_931376.1:n.175+11312G>A
XM_017019431.2:c.134+29C>T	XP_016874920.1:n.134+29C>T
XR_931376.2:n.389+11312G>A
NM_006205.3:c.134+29C>T MANE Select	NP_006196.1:n.134+29C>T