Canonical Allele Identifier: CA2794650867

Gene: PDE6H

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978157A>C , CM000674.2:g.14978157A>C	GRCh38
NC_000012.11:g.15131091A>C , CM000674.1:g.15131091A>C	GRCh37
NC_000012.10:g.15022358A>C	NCBI36
NG_016859.1:g.10136A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.134+11A>C MANE Select	ENSP00000266395.2:n.134+11A>C
ENST00000266395.2:c.134+11A>C	ENSP00000266395.2:n.134+11A>C
NM_006205.2:c.134+11A>C	NP_006196.1:n.134+11A>C
XR_931376.1:n.175+11330T>G
XM_017019431.2:c.134+11A>C	XP_016874920.1:n.134+11A>C
XR_931376.2:n.389+11330T>G
NM_006205.3:c.134+11A>C MANE Select	NP_006196.1:n.134+11A>C