Canonical Allele Identifier: CA384023740

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15130966T>G (hg19) ; chr12:g.14978032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978032T>G , CM000674.2:g.14978032T>G	GRCh38
NC_000012.11:g.15130966T>G , CM000674.1:g.15130966T>G	GRCh37
NC_000012.10:g.15022233T>G	NCBI36
NG_016859.1:g.10011T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.20T>G MANE Select	ENSP00000266395.2:p.Leu7Arg
ENST00000266395.2:c.20T>G	ENSP00000266395.2:p.Leu7Arg
NM_006205.2:c.20T>G	NP_006196.1:p.Leu7Arg
XR_931376.1:n.175+11455A>C
XM_017019431.2:c.20T>G	XP_016874920.1:p.Leu7Arg
XR_931376.2:n.389+11455A>C
NM_006205.3:c.20T>G MANE Select	NP_006196.1:p.Leu7Arg