Canonical Allele Identifier: CA256728
Gene: PDE6A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13112
ClinVar RCV Id: RCV000013991
dbSNP Id: rs121918578

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149895228C>T , CM000667.2:g.149895228C>T GRCh38
NC_000005.8:g.149254984C>T NCBI36
NC_000005.9:g.149274791C>T , CM000667.1:g.149274791C>T GRCh37
NG_009102.1:g.54566G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255266.9:c.1683G>A ENSP00000255266.5:p.Trp561Ter
ENST00000508173.5:n.1867G>A
ENST00000613228.1:c.1440G>A ENSP00000478060.1:p.Trp480Ter
ENST00000617647.4:c.1440G>A ENSP00000482774.1:p.Trp480Ter
NM_000440.2:c.1683G>A VV NP_000431.2:p.Trp561Ter
XM_011537648.1:c.1683G>A XP_011535950.1:p.Trp561Ter
XM_011537649.1:c.1137G>A XP_011535951.1:p.Trp379Ter
XM_011537650.1:c.798G>A XP_011535952.1:p.Trp266Ter
XM_011537651.1:c.636G>A XP_011535953.1:p.Trp212Ter
XM_011537652.1:c.606G>A XP_011535954.1:p.Trp202Ter
XM_011537653.1:c.606G>A XP_011535955.1:p.Trp202Ter
XM_011537654.1:c.606G>A XP_011535956.1:p.Trp202Ter
XM_011537650.2:c.798G>A
XM_011537651.2:c.636G>A
XM_011537653.2:c.606G>A
XM_011537654.2:c.606G>A
XM_017009572.2:c.1440G>A XP_016865061.1:p.Trp480Ter