Canonical Allele Identifier: CA256725

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 13110
• ClinVar RCV Id: RCV000987614 ; RCV001851842 ; RCV000013989
• dbSNP Id: rs121918576
• gnomAD v3: 5-149886354-G-C
• gnomAD v4: 5-149886354-G-C
• MyVariant Identifiers: chr5:g.149265917G>C (hg19) ; chr5:g.149886354G>C (hg38)
• PubMed: PMID:7493036 ; PMID:29472945

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149886354G>C , CM000667.2:g.149886354G>C	GRCh38
NC_000005.9:g.149265917G>C , CM000667.1:g.149265917G>C	GRCh37
NC_000005.8:g.149246110G>C	NCBI36
NG_009102.1:g.63440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1749C>G MANE Select	ENSP00000255266.5:p.Tyr583Ter
ENST00000255266.9:c.1749C>G	ENSP00000255266.5:p.Tyr583Ter
ENST00000508173.5:n.1933C>G
ENST00000613228.1:c.1506C>G	ENSP00000478060.1:p.Tyr502Ter
ENST00000617647.4:c.1506C>G	ENSP00000482774.1:p.Tyr502Ter
NM_000440.2:c.1749C>G	NP_000431.2:p.Tyr583Ter
XM_011537648.1:c.1749C>G	XP_011535950.1:p.Tyr583Ter
XM_011537649.1:c.1203C>G	XP_011535951.1:p.Tyr401Ter
XM_011537650.1:c.864C>G	XP_011535952.1:p.Tyr288Ter
XM_011537651.1:c.702C>G	XP_011535953.1:p.Tyr234Ter
XM_011537652.1:c.672C>G	XP_011535954.1:p.Tyr224Ter
XM_011537653.1:c.672C>G	XP_011535955.1:p.Tyr224Ter
XM_011537654.1:c.672C>G	XP_011535956.1:p.Tyr224Ter
XM_011537650.2:c.864C>G	XP_011535952.1:p.Tyr288Ter
XM_011537651.2:c.702C>G	XP_011535953.1:p.Tyr234Ter
XM_011537653.2:c.672C>G	XP_011535955.1:p.Tyr224Ter
XM_011537654.2:c.672C>G	XP_011535956.1:p.Tyr224Ter
XM_017009572.2:c.1506C>G	XP_016865061.1:p.Tyr502Ter
NM_000440.3:c.1749C>G MANE Select	NP_000431.2:p.Tyr583Ter