Canonical Allele Identifier: CA361693192

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149884477A>C , CM000667.2:g.149884477A>C	GRCh38
NC_000005.9:g.149264040A>C , CM000667.1:g.149264040A>C	GRCh37
NC_000005.8:g.149244233A>C	NCBI36
NG_009102.1:g.65317T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.2027+2T>G MANE Select	NP_000431.2:n.2027+2T>G
ENST00000255266.10:c.2027+2T>G MANE Select	ENSP00000255266.5:n.2027+2T>G
NM_000440.2:c.2027+2T>G	NP_000431.2:n.2027+2T>G
ENST00000255266.9:c.2027+2T>G	ENSP00000255266.5:n.2027+2T>G
ENST00000508173.5:n.2211+2T>G
ENST00000613228.1:c.1784+2T>G	ENSP00000478060.1:n.1784+2T>G
ENST00000617647.4:c.1784+2T>G	ENSP00000482774.1:n.1784+2T>G
XM_011537648.1:c.2027+2T>G	XP_011535950.1:n.2027+2T>G
XM_011537649.1:c.1481+2T>G	XP_011535951.1:n.1481+2T>G
XM_011537650.1:c.1142+2T>G	XP_011535952.1:n.1142+2T>G
XM_011537650.2:c.1142+2T>G	XP_011535952.1:n.1142+2T>G
XM_011537651.1:c.980+2T>G	XP_011535953.1:n.980+2T>G
XM_011537651.2:c.980+2T>G	XP_011535953.1:n.980+2T>G
XM_011537652.1:c.950+2T>G	XP_011535954.1:n.950+2T>G
XM_011537653.1:c.950+2T>G	XP_011535955.1:n.950+2T>G
XM_011537653.2:c.950+2T>G	XP_011535955.1:n.950+2T>G
XM_011537654.1:c.950+2T>G	XP_011535956.1:n.950+2T>G
XM_011537654.2:c.950+2T>G	XP_011535956.1:n.950+2T>G
XM_017009572.2:c.1784+2T>G	XP_016865061.1:n.1784+2T>G