Canonical Allele Identifier: CA384023892

Gene: PDE6H

Linked Data

• dbSNP Id: rs1864623696
• MyVariant Identifiers: chr12:g.15130998A>G (hg19) ; chr12:g.14978064A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978064A>G , CM000674.2:g.14978064A>G	GRCh38
NC_000012.11:g.15130998A>G , CM000674.1:g.15130998A>G	GRCh37
NC_000012.10:g.15022265A>G	NCBI36
NG_016859.1:g.10043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.52A>G MANE Select	ENSP00000266395.2:p.Thr18Ala
ENST00000266395.2:c.52A>G	ENSP00000266395.2:p.Thr18Ala
NM_006205.2:c.52A>G	NP_006196.1:p.Thr18Ala
XR_931376.1:n.175+11423T>C
XM_017019431.2:c.52A>G	XP_016874920.1:p.Thr18Ala
XR_931376.2:n.389+11423T>C
NM_006205.3:c.52A>G MANE Select	NP_006196.1:p.Thr18Ala