Canonical Allele Identifier: CA3504845

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149914942C>T , CM000667.2:g.149914942C>T	GRCh38
NC_000005.9:g.149294505C>T , CM000667.1:g.149294505C>T	GRCh37
NC_000005.8:g.149274698C>T	NCBI36
NG_009102.1:g.34852G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.998+1G>A MANE Select	NP_000431.2:n.998+1G>A
ENST00000255266.10:c.998+1G>A MANE Select	ENSP00000255266.5:n.998+1G>A
NM_000440.2:c.998+1G>A	NP_000431.2:n.998+1G>A
ENST00000255266.9:c.998+1G>A	ENSP00000255266.5:n.998+1G>A
ENST00000508173.5:n.1118+1G>A
ENST00000613228.1:c.755+1G>A	ENSP00000478060.1:n.755+1G>A
ENST00000617647.4:c.755+1G>A	ENSP00000482774.1:n.755+1G>A
XM_011537648.1:c.998+1G>A	XP_011535950.1:n.998+1G>A
XM_011537649.1:c.452+1G>A	XP_011535951.1:n.452+1G>A
XM_011537650.1:c.113+1G>A	XP_011535952.1:n.113+1G>A
XM_011537650.2:c.113+1G>A	XP_011535952.1:n.113+1G>A
XM_011537652.1:c.-246+1G>A	XP_011535954.1:n.-246+1G>A
XM_017009572.2:c.755+1G>A	XP_016865061.1:n.755+1G>A