Canonical Allele Identifier: CA2725277397

Gene: PDE6H

Linked Data

• dbSNP Id: rs1205871097

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978004G>T , CM000674.2:g.14978004G>T	GRCh38
NC_000012.11:g.15130938G>T , CM000674.1:g.15130938G>T	GRCh37
NC_000012.10:g.15022205G>T	NCBI36
NG_016859.1:g.9983G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.-9G>T MANE Select	ENSP00000266395.2:n.-9G>T
ENST00000266395.2:c.-9G>T	ENSP00000266395.2:n.-9G>T
NM_006205.2:c.-9G>T	NP_006196.1:n.-9G>T
XR_931376.1:n.175+11483C>A
XM_017019431.2:c.-9G>T	XP_016874920.1:n.-9G>T
XR_931376.2:n.389+11483C>A
NM_006205.3:c.-9G>T MANE Select	NP_006196.1:n.-9G>T