Canonical Allele Identifier: CA2725282789

Gene: PDE6H

Linked Data

• dbSNP Id: rs1283597468

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14977992A>T , CM000674.2:g.14977992A>T	GRCh38
NC_000012.11:g.15130926A>T , CM000674.1:g.15130926A>T	GRCh37
NC_000012.10:g.15022193A>T	NCBI36
NG_016859.1:g.9971A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266395.3:c.-21A>T MANE Select	ENSP00000266395.2:n.-21A>T
ENST00000266395.2:c.-21A>T	ENSP00000266395.2:n.-21A>T
NM_006205.2:c.-21A>T	NP_006196.1:n.-21A>T
XR_931376.1:n.175+11495T>A
XM_017019431.2:c.-21A>T	XP_016874920.1:n.-21A>T
XR_931376.2:n.389+11495T>A
NM_006205.3:c.-21A>T MANE Select	NP_006196.1:n.-21A>T