Canonical Allele Identifier: CA401474205

Gene: PDE6G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81651644C>A , CM000679.2:g.81651644C>A	GRCh38
NC_000017.10:g.79618674C>A , CM000679.1:g.79618674C>A	GRCh37
NC_000017.9:g.77229079C>A	NCBI36
NG_009834.1:g.9934G>T
NG_009834.2:g.16775G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002602.4:c.187+1G>T MANE Select	NP_002593.1:n.187+1G>T
ENST00000331056.10:c.187+1G>T MANE Select	ENSP00000328412.5:n.187+1G>T
NM_001365724.1:c.187+1G>T	NP_001352653.1:n.187+1G>T
NM_001365725.1:c.187+1G>T	NP_001352654.1:n.187+1G>T
NM_002602.3:c.187+1G>T	NP_002593.1:n.187+1G>T
NR_026872.1:n.126+1G>T
NR_026872.2:n.91+1G>T
NR_158591.1:n.110+1G>T
ENST00000331056.9:c.187+1G>T	ENSP00000328412.5:n.187+1G>T
ENST00000571004.1:c.187+1G>T	ENSP00000461464.1:n.187+1G>T
ENST00000571224.5:c.187+1G>T	ENSP00000458167.1:n.187+1G>T
ENST00000573076.5:c.337+1G>T	ENSP00000458567.1:n.337+1G>T
ENST00000574024.1:c.120+1G>T	ENSP00000460962.1:n.120+1G>T
ENST00000574777.1:n.87+1G>T
XM_006721942.2:c.337+1G>T	XP_006722005.1:n.337+1G>T
XM_006721942.3:c.337+1G>T	XP_006722005.1:n.337+1G>T
XM_017024734.1:c.397+1G>T	XP_016880223.1:n.397+1G>T
XM_017024736.1:c.187+1G>T	XP_016880225.1:n.187+1G>T