Canonical Allele Identifier: CA3504589

Gene: PDE6A

Linked Data

• dbSNP Id: rs747136303
• ExAC: 5:149274783 C / T
• gnomAD v2: 5-149274783-C-T
• gnomAD v4: 5-149895220-C-T
• MyVariant Identifiers: chr5:g.149274783C>T (hg19) ; chr5:g.149895220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895220C>T , CM000667.2:g.149895220C>T	GRCh38
NC_000005.9:g.149274783C>T , CM000667.1:g.149274783C>T	GRCh37
NC_000005.8:g.149254976C>T	NCBI36
NG_009102.1:g.54574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1691G>A MANE Select	ENSP00000255266.5:p.Gly564Asp
ENST00000255266.9:c.1691G>A	ENSP00000255266.5:p.Gly564Asp
ENST00000508173.5:n.1875G>A
ENST00000613228.1:c.1448G>A	ENSP00000478060.1:p.Gly483Asp
ENST00000617647.4:c.1448G>A	ENSP00000482774.1:p.Gly483Asp
NM_000440.2:c.1691G>A	NP_000431.2:p.Gly564Asp
XM_011537648.1:c.1691G>A	XP_011535950.1:p.Gly564Asp
XM_011537649.1:c.1145G>A	XP_011535951.1:p.Gly382Asp
XM_011537650.1:c.806G>A	XP_011535952.1:p.Gly269Asp
XM_011537651.1:c.644G>A	XP_011535953.1:p.Gly215Asp
XM_011537652.1:c.614G>A	XP_011535954.1:p.Gly205Asp
XM_011537653.1:c.614G>A	XP_011535955.1:p.Gly205Asp
XM_011537654.1:c.614G>A	XP_011535956.1:p.Gly205Asp
XM_011537650.2:c.806G>A	XP_011535952.1:p.Gly269Asp
XM_011537651.2:c.644G>A	XP_011535953.1:p.Gly215Asp
XM_011537653.2:c.614G>A	XP_011535955.1:p.Gly205Asp
XM_011537654.2:c.614G>A	XP_011535956.1:p.Gly205Asp
XM_017009572.2:c.1448G>A	XP_016865061.1:p.Gly483Asp
NM_000440.3:c.1691G>A MANE Select	NP_000431.2:p.Gly564Asp