Canonical Allele Identifier: CA384023705

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15130959A>T (hg19) ; chr12:g.14978025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978025A>T , CM000674.2:g.14978025A>T	GRCh38
NC_000012.11:g.15130959A>T , CM000674.1:g.15130959A>T	GRCh37
NC_000012.10:g.15022226A>T	NCBI36
NG_016859.1:g.10004A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.13A>T MANE Select	ENSP00000266395.2:p.Thr5Ser
ENST00000266395.2:c.13A>T	ENSP00000266395.2:p.Thr5Ser
NM_006205.2:c.13A>T	NP_006196.1:p.Thr5Ser
XR_931376.1:n.175+11462T>A
XM_017019431.2:c.13A>T	XP_016874920.1:p.Thr5Ser
XR_931376.2:n.389+11462T>A
NM_006205.3:c.13A>T MANE Select	NP_006196.1:p.Thr5Ser