Canonical Allele Identifier: CA361697772

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149933932G>A , CM000667.2:g.149933932G>A	GRCh38
NC_000005.9:g.149313495G>A , CM000667.1:g.149313495G>A	GRCh37
NC_000005.8:g.149293688G>A	NCBI36
NG_009102.1:g.15862C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.715C>T MANE Select	NP_000431.2:p.Gln239Ter
ENST00000255266.10:c.715C>T MANE Select	ENSP00000255266.5:p.Gln239Ter
NM_000440.2:c.715C>T	NP_000431.2:p.Gln239Ter
ENST00000255266.9:c.715C>T	ENSP00000255266.5:p.Gln239Ter
ENST00000508173.5:n.835C>T
ENST00000613228.1:c.475-2764C>T	ENSP00000478060.1:n.475-2764C>T
ENST00000617647.4:c.475-2764C>T	ENSP00000482774.1:n.475-2764C>T
XM_011537648.1:c.715C>T	XP_011535950.1:p.Gln239Ter
XM_011537649.1:c.169C>T	XP_011535951.1:p.Gln57Ter
XM_017009572.2:c.475-2764C>T	XP_016865061.1:n.475-2764C>T