Canonical Allele Identifier: CA478714538

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15130976A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978042A>T , CM000674.2:g.14978042A>T	GRCh38
NC_000012.11:g.15130976A>T , CM000674.1:g.15130976A>T	GRCh37
NC_000012.10:g.15022243A>T	NCBI36
NG_016859.1:g.10021A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.30A>T MANE Select	ENSP00000266395.2:p.Pro10=
ENST00000266395.2:c.30A>T	ENSP00000266395.2:p.Pro10=
NM_006205.2:c.30A>T	NP_006196.1:p.Pro10=
XR_931376.1:n.175+11445T>A
XM_017019431.2:c.30A>T	XP_016874920.1:p.Pro10=
XR_931376.2:n.389+11445T>A
NM_006205.3:c.30A>T MANE Select	NP_006196.1:p.Pro10=