Canonical Allele Identifier: CA146174

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 93010
• ClinVar RCV Id: RCV000078825 ; RCV001001657 ; RCV001521115 ; RCV001156330
• dbSNP Id: rs78775072
• ExAC: 5:149264106 G / A
• gnomAD v2: 5-149264106-G-A
• gnomAD v3: 5-149884543-G-A
• gnomAD v4: 5-149884543-G-A
• MyVariant Identifiers: chr5:g.149264106G>A (hg19) ; chr5:g.149884543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149884543G>A , CM000667.2:g.149884543G>A	GRCh38
NC_000005.9:g.149264106G>A , CM000667.1:g.149264106G>A	GRCh37
NC_000005.8:g.149244299G>A	NCBI36
NG_009102.1:g.65251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1963C>T MANE Select	ENSP00000255266.5:p.His655Tyr
ENST00000255266.9:c.1963C>T	ENSP00000255266.5:p.His655Tyr
ENST00000508173.5:n.2147C>T
ENST00000613228.1:c.1720C>T	ENSP00000478060.1:p.His574Tyr
ENST00000617647.4:c.1720C>T	ENSP00000482774.1:p.His574Tyr
NM_000440.2:c.1963C>T	NP_000431.2:p.His655Tyr
XM_011537648.1:c.1963C>T	XP_011535950.1:p.His655Tyr
XM_011537649.1:c.1417C>T	XP_011535951.1:p.His473Tyr
XM_011537650.1:c.1078C>T	XP_011535952.1:p.His360Tyr
XM_011537651.1:c.916C>T	XP_011535953.1:p.His306Tyr
XM_011537652.1:c.886C>T	XP_011535954.1:p.His296Tyr
XM_011537653.1:c.886C>T	XP_011535955.1:p.His296Tyr
XM_011537654.1:c.886C>T	XP_011535956.1:p.His296Tyr
XM_011537650.2:c.1078C>T	XP_011535952.1:p.His360Tyr
XM_011537651.2:c.916C>T	XP_011535953.1:p.His306Tyr
XM_011537653.2:c.886C>T	XP_011535955.1:p.His296Tyr
XM_011537654.2:c.886C>T	XP_011535956.1:p.His296Tyr
XM_017009572.2:c.1720C>T	XP_016865061.1:p.His574Tyr
NM_000440.3:c.1963C>T MANE Select	NP_000431.2:p.His655Tyr