Canonical Allele Identifier: CA447141373

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274818G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895255G>A , CM000667.2:g.149895255G>A	GRCh38
NC_000005.9:g.149274818G>A , CM000667.1:g.149274818G>A	GRCh37
NC_000005.8:g.149255011G>A	NCBI36
NG_009102.1:g.54539C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1656C>T MANE Select	ENSP00000255266.5:p.Gly552=
ENST00000255266.9:c.1656C>T	ENSP00000255266.5:p.Gly552=
ENST00000508173.5:n.1840C>T
ENST00000613228.1:c.1413C>T	ENSP00000478060.1:p.Gly471=
ENST00000617647.4:c.1413C>T	ENSP00000482774.1:p.Gly471=
NM_000440.2:c.1656C>T	NP_000431.2:p.Gly552=
XM_011537648.1:c.1656C>T	XP_011535950.1:p.Gly552=
XM_011537649.1:c.1110C>T	XP_011535951.1:p.Gly370=
XM_011537650.1:c.771C>T	XP_011535952.1:p.Gly257=
XM_011537651.1:c.609C>T	XP_011535953.1:p.Gly203=
XM_011537652.1:c.579C>T	XP_011535954.1:p.Gly193=
XM_011537653.1:c.579C>T	XP_011535955.1:p.Gly193=
XM_011537654.1:c.579C>T	XP_011535956.1:p.Gly193=
XM_011537650.2:c.771C>T	XP_011535952.1:p.Gly257=
XM_011537651.2:c.609C>T	XP_011535953.1:p.Gly203=
XM_011537653.2:c.579C>T	XP_011535955.1:p.Gly193=
XM_011537654.2:c.579C>T	XP_011535956.1:p.Gly193=
XM_017009572.2:c.1413C>T	XP_016865061.1:p.Gly471=
NM_000440.3:c.1656C>T MANE Select	NP_000431.2:p.Gly552=