Canonical Allele Identifier: CA2575088696

Gene: PDE6H

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14977976C>G , CM000674.2:g.14977976C>G	GRCh38
NC_000012.11:g.15130910C>G , CM000674.1:g.15130910C>G	GRCh37
NC_000012.10:g.15022177C>G	NCBI36
NG_016859.1:g.9955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.-37C>G MANE Select	ENSP00000266395.2:n.-37C>G
ENST00000266395.2:c.-37C>G	ENSP00000266395.2:n.-37C>G
NM_006205.2:c.-37C>G	NP_006196.1:n.-37C>G
XR_931376.1:n.175+11511G>C
XM_017019431.2:c.-37C>G	XP_016874920.1:n.-37C>G
XR_931376.2:n.389+11511G>C
NM_006205.3:c.-37C>G MANE Select	NP_006196.1:n.-37C>G