Canonical Allele Identifier: CA1590703852
Gene: PDE6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149896626G= , CM000667.2:g.149896626G= GRCh38
NC_000005.9:g.149276189G= , CM000667.1:g.149276189G= GRCh37
NC_000005.8:g.149256382G= NCBI36
NG_009102.1:g.53168C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000255266.10:c.1473+85C= MANE Select ENSP00000255266.5:n.1473+85C=
ENST00000255266.9:c.1473+85C= ENSP00000255266.5:n.1473+85C=
ENST00000508173.5:n.1534C=
ENST00000613228.1:c.1230+85C= ENSP00000478060.1:n.1230+85C=
ENST00000617647.4:c.1230+85C= ENSP00000482774.1:n.1230+85C=
NM_000440.2:c.1473+85C= NP_000431.2:n.1473+85C=
XM_011537648.1:c.1473+85C= XP_011535950.1:n.1473+85C=
XM_011537649.1:c.927+85C= XP_011535951.1:n.927+85C=
XM_011537650.1:c.588+85C= XP_011535952.1:n.588+85C=
XM_011537651.1:c.426+85C= XP_011535953.1:n.426+85C=
XM_011537652.1:c.396+85C= XP_011535954.1:n.396+85C=
XM_011537653.1:c.396+85C= XP_011535955.1:n.396+85C=
XM_011537654.1:c.396+85C= XP_011535956.1:n.396+85C=
XM_011537650.2:c.588+85C= XP_011535952.1:n.588+85C=
XM_011537651.2:c.426+85C= XP_011535953.1:n.426+85C=
XM_011537653.2:c.396+85C= XP_011535955.1:n.396+85C=
XM_011537654.2:c.396+85C= XP_011535956.1:n.396+85C=
XM_017009572.2:c.1230+85C= XP_016865061.1:n.1230+85C=
NM_000440.3:c.1473+85C= MANE Select NP_000431.2:n.1473+85C=