Canonical Allele Identifier: CA3504691

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 351989
• ClinVar RCV Id: RCV000307692 ; RCV001513739
• dbSNP Id: rs201527437
• ExAC: 5:149276350 C / T
• gnomAD v2: 5-149276350-C-T
• gnomAD v3: 5-149896787-C-T
• gnomAD v4: 5-149896787-C-T
• MyVariant Identifiers: chr5:g.149276350C>T (hg19) ; chr5:g.149896787C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896787C>T , CM000667.2:g.149896787C>T	GRCh38
NC_000005.9:g.149276350C>T , CM000667.1:g.149276350C>T	GRCh37
NC_000005.8:g.149256543C>T	NCBI36
NG_009102.1:g.53007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1408-11G>A MANE Select	ENSP00000255266.5:n.1408-11G>A
ENST00000255266.9:c.1408-11G>A	ENSP00000255266.5:n.1408-11G>A
ENST00000508173.5:n.1384-11G>A
ENST00000613228.1:c.1165-11G>A	ENSP00000478060.1:n.1165-11G>A
ENST00000617647.4:c.1165-11G>A	ENSP00000482774.1:n.1165-11G>A
NM_000440.2:c.1408-11G>A	NP_000431.2:n.1408-11G>A
XM_011537648.1:c.1408-11G>A	XP_011535950.1:n.1408-11G>A
XM_011537649.1:c.862-11G>A	XP_011535951.1:n.862-11G>A
XM_011537650.1:c.523-11G>A	XP_011535952.1:n.523-11G>A
XM_011537651.1:c.361-11G>A	XP_011535953.1:n.361-11G>A
XM_011537652.1:c.331-11G>A	XP_011535954.1:n.331-11G>A
XM_011537653.1:c.331-11G>A	XP_011535955.1:n.331-11G>A
XM_011537654.1:c.331-11G>A	XP_011535956.1:n.331-11G>A
XM_011537650.2:c.523-11G>A	XP_011535952.1:n.523-11G>A
XM_011537651.2:c.361-11G>A	XP_011535953.1:n.361-11G>A
XM_011537653.2:c.331-11G>A	XP_011535955.1:n.331-11G>A
XM_011537654.2:c.331-11G>A	XP_011535956.1:n.331-11G>A
XM_017009572.2:c.1165-11G>A	XP_016865061.1:n.1165-11G>A
NM_000440.3:c.1408-11G>A MANE Select	NP_000431.2:n.1408-11G>A