Canonical Allele Identifier: CA361695253

Gene: PDE6A

Linked Data

• dbSNP Id: rs1752698120
• gnomAD v4: 5-149895289-G-A
• MyVariant Identifiers: chr5:g.149274852G>A (hg19) ; chr5:g.149895289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895289G>A , CM000667.2:g.149895289G>A	GRCh38
NC_000005.9:g.149274852G>A , CM000667.1:g.149274852G>A	GRCh37
NC_000005.8:g.149255045G>A	NCBI36
NG_009102.1:g.54505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1622C>T MANE Select	ENSP00000255266.5:p.Ala541Val
ENST00000255266.9:c.1622C>T	ENSP00000255266.5:p.Ala541Val
ENST00000508173.5:n.1806C>T
ENST00000613228.1:c.1379C>T	ENSP00000478060.1:p.Ala460Val
ENST00000617647.4:c.1379C>T	ENSP00000482774.1:p.Ala460Val
NM_000440.2:c.1622C>T	NP_000431.2:p.Ala541Val
XM_011537648.1:c.1622C>T	XP_011535950.1:p.Ala541Val
XM_011537649.1:c.1076C>T	XP_011535951.1:p.Ala359Val
XM_011537650.1:c.737C>T	XP_011535952.1:p.Ala246Val
XM_011537651.1:c.575C>T	XP_011535953.1:p.Ala192Val
XM_011537652.1:c.545C>T	XP_011535954.1:p.Ala182Val
XM_011537653.1:c.545C>T	XP_011535955.1:p.Ala182Val
XM_011537654.1:c.545C>T	XP_011535956.1:p.Ala182Val
XM_011537650.2:c.737C>T	XP_011535952.1:p.Ala246Val
XM_011537651.2:c.575C>T	XP_011535953.1:p.Ala192Val
XM_011537653.2:c.545C>T	XP_011535955.1:p.Ala182Val
XM_011537654.2:c.545C>T	XP_011535956.1:p.Ala182Val
XM_017009572.2:c.1379C>T	XP_016865061.1:p.Ala460Val
NM_000440.3:c.1622C>T MANE Select	NP_000431.2:p.Ala541Val