Canonical Allele Identifier: CA228875

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 100557
• ClinVar RCV Id: RCV000086934 ; RCV000264899
• dbSNP Id: rs137853899
• ExAC: 5:149301252 C / T
• gnomAD v2: 5-149301252-C-T
• gnomAD v3: 5-149921689-C-T
• gnomAD v4: 5-149921689-C-T
• MyVariant Identifiers: chr5:g.149301252C>T (hg19) ; chr5:g.149921689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149921689C>T , CM000667.2:g.149921689C>T	GRCh38
NC_000005.9:g.149301252C>T , CM000667.1:g.149301252C>T	GRCh37
NC_000005.8:g.149281445C>T	NCBI36
NG_009102.1:g.28105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.879G>A MANE Select	ENSP00000255266.5:p.Pro293=
ENST00000255266.9:c.879G>A	ENSP00000255266.5:p.Pro293=
ENST00000508173.5:n.999G>A
ENST00000613228.1:c.636G>A	ENSP00000478060.1:p.Pro212=
ENST00000617647.4:c.636G>A	ENSP00000482774.1:p.Pro212=
NM_000440.2:c.879G>A	NP_000431.2:p.Pro293=
XM_011537648.1:c.879G>A	XP_011535950.1:p.Pro293=
XM_011537649.1:c.333G>A	XP_011535951.1:p.Pro111=
XM_011537650.1:c.-7G>A	XP_011535952.1:n.-7G>A
XM_011537650.2:c.-7G>A	XP_011535952.1:n.-7G>A
XM_017009572.2:c.636G>A	XP_016865061.1:p.Pro212=
NM_000440.3:c.879G>A MANE Select	NP_000431.2:p.Pro293=