Canonical Allele Identifier: CA2675941469

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149896685-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896685G>A , CM000667.2:g.149896685G>A	GRCh38
NC_000005.9:g.149276248G>A , CM000667.1:g.149276248G>A	GRCh37
NC_000005.8:g.149256441G>A	NCBI36
NG_009102.1:g.53109C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1473+26C>T MANE Select	ENSP00000255266.5:n.1473+26C>T
ENST00000255266.9:c.1473+26C>T	ENSP00000255266.5:n.1473+26C>T
ENST00000508173.5:n.1475C>T
ENST00000613228.1:c.1230+26C>T	ENSP00000478060.1:n.1230+26C>T
ENST00000617647.4:c.1230+26C>T	ENSP00000482774.1:n.1230+26C>T
NM_000440.2:c.1473+26C>T	NP_000431.2:n.1473+26C>T
XM_011537648.1:c.1473+26C>T	XP_011535950.1:n.1473+26C>T
XM_011537649.1:c.927+26C>T	XP_011535951.1:n.927+26C>T
XM_011537650.1:c.588+26C>T	XP_011535952.1:n.588+26C>T
XM_011537651.1:c.426+26C>T	XP_011535953.1:n.426+26C>T
XM_011537652.1:c.396+26C>T	XP_011535954.1:n.396+26C>T
XM_011537653.1:c.396+26C>T	XP_011535955.1:n.396+26C>T
XM_011537654.1:c.396+26C>T	XP_011535956.1:n.396+26C>T
XM_011537650.2:c.588+26C>T	XP_011535952.1:n.588+26C>T
XM_011537651.2:c.426+26C>T	XP_011535953.1:n.426+26C>T
XM_011537653.2:c.396+26C>T	XP_011535955.1:n.396+26C>T
XM_011537654.2:c.396+26C>T	XP_011535956.1:n.396+26C>T
XM_017009572.2:c.1230+26C>T	XP_016865061.1:n.1230+26C>T
NM_000440.3:c.1473+26C>T MANE Select	NP_000431.2:n.1473+26C>T