Canonical Allele Identifier: CA361696623

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149931143A>T , CM000667.2:g.149931143A>T	GRCh38
NC_000005.9:g.149310706A>T , CM000667.1:g.149310706A>T	GRCh37
NC_000005.8:g.149290899A>T	NCBI36
NG_009102.1:g.18651T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.743T>A MANE Select	NP_000431.2:p.Val248Asp
ENST00000255266.10:c.743T>A MANE Select	ENSP00000255266.5:p.Val248Asp
NM_000440.2:c.743T>A	NP_000431.2:p.Val248Asp
ENST00000255266.9:c.743T>A	ENSP00000255266.5:p.Val248Asp
ENST00000508173.5:n.863T>A
ENST00000613228.1:c.500T>A	ENSP00000478060.1:p.Val167Asp
ENST00000617647.4:c.500T>A	ENSP00000482774.1:p.Val167Asp
XM_011537648.1:c.743T>A	XP_011535950.1:p.Val248Asp
XM_011537649.1:c.197T>A	XP_011535951.1:p.Val66Asp
XM_017009572.2:c.500T>A	XP_016865061.1:p.Val167Asp