Canonical Allele Identifier: CA478714544

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15130979T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978045T>A , CM000674.2:g.14978045T>A	GRCh38
NC_000012.11:g.15130979T>A , CM000674.1:g.15130979T>A	GRCh37
NC_000012.10:g.15022246T>A	NCBI36
NG_016859.1:g.10024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.33T>A MANE Select	ENSP00000266395.2:p.Ala11=
ENST00000266395.2:c.33T>A	ENSP00000266395.2:p.Ala11=
NM_006205.2:c.33T>A	NP_006196.1:p.Ala11=
XR_931376.1:n.175+11442A>T
XM_017019431.2:c.33T>A	XP_016874920.1:p.Ala11=
XR_931376.2:n.389+11442A>T
NM_006205.3:c.33T>A MANE Select	NP_006196.1:p.Ala11=