Canonical Allele Identifier: CA384023858

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15130990G>T (hg19) ; chr12:g.14978056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978056G>T , CM000674.2:g.14978056G>T	GRCh38
NC_000012.11:g.15130990G>T , CM000674.1:g.15130990G>T	GRCh37
NC_000012.10:g.15022257G>T	NCBI36
NG_016859.1:g.10035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.44G>T MANE Select	ENSP00000266395.2:p.Gly15Val
ENST00000266395.2:c.44G>T	ENSP00000266395.2:p.Gly15Val
NM_006205.2:c.44G>T	NP_006196.1:p.Gly15Val
XR_931376.1:n.175+11431C>A
XM_017019431.2:c.44G>T	XP_016874920.1:p.Gly15Val
XR_931376.2:n.389+11431C>A
NM_006205.3:c.44G>T MANE Select	NP_006196.1:p.Gly15Val