Canonical Allele Identifier: CA129067137

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 853050
• ClinVar RCV Id: RCV001057788
• dbSNP Id: rs1013117871
• MyVariant Identifiers: chr5:g.149274823T>C (hg19) ; chr5:g.149895260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895260T>C , CM000667.2:g.149895260T>C	GRCh38
NC_000005.9:g.149274823T>C , CM000667.1:g.149274823T>C	GRCh37
NC_000005.8:g.149255016T>C	NCBI36
NG_009102.1:g.54534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1651A>G MANE Select	ENSP00000255266.5:p.Lys551Glu
ENST00000255266.9:c.1651A>G	ENSP00000255266.5:p.Lys551Glu
ENST00000508173.5:n.1835A>G
ENST00000613228.1:c.1408A>G	ENSP00000478060.1:p.Lys470Glu
ENST00000617647.4:c.1408A>G	ENSP00000482774.1:p.Lys470Glu
NM_000440.2:c.1651A>G	NP_000431.2:p.Lys551Glu
XM_011537648.1:c.1651A>G	XP_011535950.1:p.Lys551Glu
XM_011537649.1:c.1105A>G	XP_011535951.1:p.Lys369Glu
XM_011537650.1:c.766A>G	XP_011535952.1:p.Lys256Glu
XM_011537651.1:c.604A>G	XP_011535953.1:p.Lys202Glu
XM_011537652.1:c.574A>G	XP_011535954.1:p.Lys192Glu
XM_011537653.1:c.574A>G	XP_011535955.1:p.Lys192Glu
XM_011537654.1:c.574A>G	XP_011535956.1:p.Lys192Glu
XM_011537650.2:c.766A>G	XP_011535952.1:p.Lys256Glu
XM_011537651.2:c.604A>G	XP_011535953.1:p.Lys202Glu
XM_011537653.2:c.574A>G	XP_011535955.1:p.Lys192Glu
XM_011537654.2:c.574A>G	XP_011535956.1:p.Lys192Glu
XM_017009572.2:c.1408A>G	XP_016865061.1:p.Lys470Glu
NM_000440.3:c.1651A>G MANE Select	NP_000431.2:p.Lys551Glu