Canonical Allele Identifier: CA3504357

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149867761A>C , CM000667.2:g.149867761A>C	GRCh38
NC_000005.9:g.149247324A>C , CM000667.1:g.149247324A>C	GRCh37
NC_000005.8:g.149227517A>C	NCBI36
NG_009102.1:g.82033T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.2238T>G MANE Select	NP_000431.2:p.Gly746=
ENST00000255266.10:c.2238T>G MANE Select	ENSP00000255266.5:p.Gly746=
NM_000440.2:c.2238T>G	NP_000431.2:p.Gly746=
ENST00000255266.9:c.2238T>G	ENSP00000255266.5:p.Gly746=
ENST00000508173.5:n.2422T>G
ENST00000512670.1:n.132T>G
ENST00000613228.1:c.1995T>G	ENSP00000478060.1:p.Gly665=
ENST00000617647.4:c.1995T>G	ENSP00000482774.1:p.Gly665=
XM_011537648.1:c.2238T>G	XP_011535950.1:p.Gly746=
XM_011537649.1:c.1692T>G	XP_011535951.1:p.Gly564=
XM_011537650.1:c.1353T>G	XP_011535952.1:p.Gly451=
XM_011537650.2:c.1353T>G	XP_011535952.1:p.Gly451=
XM_011537651.1:c.1191T>G	XP_011535953.1:p.Gly397=
XM_011537651.2:c.1191T>G	XP_011535953.1:p.Gly397=
XM_011537652.1:c.1161T>G	XP_011535954.1:p.Gly387=
XM_011537653.1:c.1161T>G	XP_011535955.1:p.Gly387=
XM_011537653.2:c.1161T>G	XP_011535955.1:p.Gly387=
XM_011537654.1:c.1161T>G	XP_011535956.1:p.Gly387=
XM_011537654.2:c.1161T>G	XP_011535956.1:p.Gly387=
XM_017009572.2:c.1995T>G	XP_016865061.1:p.Gly665=