Canonical Allele Identifier: CA361698139

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149934564A>C , CM000667.2:g.149934564A>C	GRCh38
NC_000005.9:g.149314127A>C , CM000667.1:g.149314127A>C	GRCh37
NC_000005.8:g.149294320A>C	NCBI36
NG_009102.1:g.15230T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.627+2T>G MANE Select	NP_000431.2:n.627+2T>G
ENST00000255266.10:c.627+2T>G MANE Select	ENSP00000255266.5:n.627+2T>G
NM_000440.2:c.627+2T>G	NP_000431.2:n.627+2T>G
ENST00000255266.9:c.627+2T>G	ENSP00000255266.5:n.627+2T>G
ENST00000508173.5:n.747+2T>G
ENST00000613228.1:c.475-3396T>G	ENSP00000478060.1:n.475-3396T>G
ENST00000617647.4:c.475-3396T>G	ENSP00000482774.1:n.475-3396T>G
XM_011537648.1:c.627+2T>G	XP_011535950.1:n.627+2T>G
XM_011537649.1:c.81+2T>G	XP_011535951.1:n.81+2T>G
XM_017009572.2:c.475-3396T>G	XP_016865061.1:n.475-3396T>G