Canonical Allele Identifier: CA478714680

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15131021G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978087G>A , CM000674.2:g.14978087G>A	GRCh38
NC_000012.11:g.15131021G>A , CM000674.1:g.15131021G>A	GRCh37
NC_000012.10:g.15022288G>A	NCBI36
NG_016859.1:g.10066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.75G>A MANE Select	ENSP00000266395.2:p.Lys25=
ENST00000266395.2:c.75G>A	ENSP00000266395.2:p.Lys25=
NM_006205.2:c.75G>A	NP_006196.1:p.Lys25=
XR_931376.1:n.175+11400C>T
XM_017019431.2:c.75G>A	XP_016874920.1:p.Lys25=
XR_931376.2:n.389+11400C>T
NM_006205.3:c.75G>A MANE Select	NP_006196.1:p.Lys25=