Canonical Allele Identifier: CA2794650861

Gene: PDE6H

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978003G>T , CM000674.2:g.14978003G>T	GRCh38
NC_000012.11:g.15130937G>T , CM000674.1:g.15130937G>T	GRCh37
NC_000012.10:g.15022204G>T	NCBI36
NG_016859.1:g.9982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.-10G>T MANE Select	ENSP00000266395.2:n.-10G>T
ENST00000266395.2:c.-10G>T	ENSP00000266395.2:n.-10G>T
NM_006205.2:c.-10G>T	NP_006196.1:n.-10G>T
XR_931376.1:n.175+11484C>A
XM_017019431.2:c.-10G>T	XP_016874920.1:n.-10G>T
XR_931376.2:n.389+11484C>A
NM_006205.3:c.-10G>T MANE Select	NP_006196.1:n.-10G>T