Canonical Allele Identifier: CA361695187

Gene: PDE6A

Linked Data

• dbSNP Id: rs1581176570
• gnomAD v4: 5-149895256-C-G
• MyVariant Identifiers: chr5:g.149274819C>G (hg19) ; chr5:g.149895256C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895256C>G , CM000667.2:g.149895256C>G	GRCh38
NC_000005.9:g.149274819C>G , CM000667.1:g.149274819C>G	GRCh37
NC_000005.8:g.149255012C>G	NCBI36
NG_009102.1:g.54538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1655G>C MANE Select	ENSP00000255266.5:p.Gly552Ala
ENST00000255266.9:c.1655G>C	ENSP00000255266.5:p.Gly552Ala
ENST00000508173.5:n.1839G>C
ENST00000613228.1:c.1412G>C	ENSP00000478060.1:p.Gly471Ala
ENST00000617647.4:c.1412G>C	ENSP00000482774.1:p.Gly471Ala
NM_000440.2:c.1655G>C	NP_000431.2:p.Gly552Ala
XM_011537648.1:c.1655G>C	XP_011535950.1:p.Gly552Ala
XM_011537649.1:c.1109G>C	XP_011535951.1:p.Gly370Ala
XM_011537650.1:c.770G>C	XP_011535952.1:p.Gly257Ala
XM_011537651.1:c.608G>C	XP_011535953.1:p.Gly203Ala
XM_011537652.1:c.578G>C	XP_011535954.1:p.Gly193Ala
XM_011537653.1:c.578G>C	XP_011535955.1:p.Gly193Ala
XM_011537654.1:c.578G>C	XP_011535956.1:p.Gly193Ala
XM_011537650.2:c.770G>C	XP_011535952.1:p.Gly257Ala
XM_011537651.2:c.608G>C	XP_011535953.1:p.Gly203Ala
XM_011537653.2:c.578G>C	XP_011535955.1:p.Gly193Ala
XM_011537654.2:c.578G>C	XP_011535956.1:p.Gly193Ala
XM_017009572.2:c.1412G>C	XP_016865061.1:p.Gly471Ala
NM_000440.3:c.1655G>C MANE Select	NP_000431.2:p.Gly552Ala