Canonical Allele Identifier: CA3504671

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 2108462
• ClinVar RCV Id: RCV003034187
• dbSNP Id: rs770438483
• ExAC: 5:149276256 T / C
• gnomAD v2: 5-149276256-T-C
• gnomAD v3: 5-149896693-T-C
• gnomAD v4: 5-149896693-T-C
• MyVariant Identifiers: chr5:g.149276256T>C (hg19) ; chr5:g.149896693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896693T>C , CM000667.2:g.149896693T>C	GRCh38
NC_000005.9:g.149276256T>C , CM000667.1:g.149276256T>C	GRCh37
NC_000005.8:g.149256449T>C	NCBI36
NG_009102.1:g.53101A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1473+18A>G MANE Select	ENSP00000255266.5:n.1473+18A>G
ENST00000255266.9:c.1473+18A>G	ENSP00000255266.5:n.1473+18A>G
ENST00000508173.5:n.1467A>G
ENST00000613228.1:c.1230+18A>G	ENSP00000478060.1:n.1230+18A>G
ENST00000617647.4:c.1230+18A>G	ENSP00000482774.1:n.1230+18A>G
NM_000440.2:c.1473+18A>G	NP_000431.2:n.1473+18A>G
XM_011537648.1:c.1473+18A>G	XP_011535950.1:n.1473+18A>G
XM_011537649.1:c.927+18A>G	XP_011535951.1:n.927+18A>G
XM_011537650.1:c.588+18A>G	XP_011535952.1:n.588+18A>G
XM_011537651.1:c.426+18A>G	XP_011535953.1:n.426+18A>G
XM_011537652.1:c.396+18A>G	XP_011535954.1:n.396+18A>G
XM_011537653.1:c.396+18A>G	XP_011535955.1:n.396+18A>G
XM_011537654.1:c.396+18A>G	XP_011535956.1:n.396+18A>G
XM_011537650.2:c.588+18A>G	XP_011535952.1:n.588+18A>G
XM_011537651.2:c.426+18A>G	XP_011535953.1:n.426+18A>G
XM_011537653.2:c.396+18A>G	XP_011535955.1:n.396+18A>G
XM_011537654.2:c.396+18A>G	XP_011535956.1:n.396+18A>G
XM_017009572.2:c.1230+18A>G	XP_016865061.1:n.1230+18A>G
NM_000440.3:c.1473+18A>G MANE Select	NP_000431.2:n.1473+18A>G