Canonical Allele Identifier: CA129052579

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149866211G>A , CM000667.2:g.149866211G>A	GRCh38
NC_000005.9:g.149245774G>A , CM000667.1:g.149245774G>A	GRCh37
NC_000005.8:g.149225967G>A	NCBI36
NG_009102.1:g.83583C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.2317C>T MANE Select	NP_000431.2:p.Gln773Ter
ENST00000255266.10:c.2317C>T MANE Select	ENSP00000255266.5:p.Gln773Ter
NM_000440.2:c.2317C>T	NP_000431.2:p.Gln773Ter
ENST00000255266.9:c.2317C>T	ENSP00000255266.5:p.Gln773Ter
ENST00000508173.5:n.2501C>T
ENST00000512670.1:n.1682C>T
ENST00000613228.1:c.2074C>T	ENSP00000478060.1:p.Gln692Ter
ENST00000617647.4:c.2074C>T	ENSP00000482774.1:p.Gln692Ter
XM_011537648.1:c.2317C>T	XP_011535950.1:p.Gln773Ter
XM_011537649.1:c.1771C>T	XP_011535951.1:p.Gln591Ter
XM_011537650.1:c.1432C>T	XP_011535952.1:p.Gln478Ter
XM_011537650.2:c.1432C>T	XP_011535952.1:p.Gln478Ter
XM_011537651.1:c.1270C>T	XP_011535953.1:p.Gln424Ter
XM_011537651.2:c.1270C>T	XP_011535953.1:p.Gln424Ter
XM_011537652.1:c.1240C>T	XP_011535954.1:p.Gln414Ter
XM_011537653.1:c.1240C>T	XP_011535955.1:p.Gln414Ter
XM_011537653.2:c.1240C>T	XP_011535955.1:p.Gln414Ter
XM_011537654.1:c.1240C>T	XP_011535956.1:p.Gln414Ter
XM_011537654.2:c.1240C>T	XP_011535956.1:p.Gln414Ter
XM_017009572.2:c.2074C>T	XP_016865061.1:p.Gln692Ter