Canonical Allele Identifier: CA361698740

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 444666
• ClinVar RCV Id: RCV000513022 ; RCV001199500
• dbSNP Id: rs1554090012
• gnomAD v4: 5-149907310-A-T
• MyVariant Identifiers: chr5:g.149286873A>T (hg19) ; chr5:g.149907310A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149907310A>T , CM000667.2:g.149907310A>T	GRCh38
NC_000005.9:g.149286873A>T , CM000667.1:g.149286873A>T	GRCh37
NC_000005.8:g.149267066A>T	NCBI36
NG_009102.1:g.42484T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1065+2T>A MANE Select	ENSP00000255266.5:n.1065+2T>A
ENST00000255266.9:c.1065+2T>A	ENSP00000255266.5:n.1065+2T>A
ENST00000508173.5:n.1185+2T>A
ENST00000613228.1:c.822+2T>A	ENSP00000478060.1:n.822+2T>A
ENST00000617647.4:c.822+2T>A	ENSP00000482774.1:n.822+2T>A
NM_000440.2:c.1065+2T>A	NP_000431.2:n.1065+2T>A
XM_011537648.1:c.1065+2T>A	XP_011535950.1:n.1065+2T>A
XM_011537649.1:c.519+2T>A	XP_011535951.1:n.519+2T>A
XM_011537650.1:c.180+2T>A	XP_011535952.1:n.180+2T>A
XM_011537652.1:c.-179+2T>A	XP_011535954.1:n.-179+2T>A
XM_011537650.2:c.180+2T>A	XP_011535952.1:n.180+2T>A
XM_017009572.2:c.822+2T>A	XP_016865061.1:n.822+2T>A
NM_000440.3:c.1065+2T>A MANE Select	NP_000431.2:n.1065+2T>A