Canonical Allele Identifier: CA361695205

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274828A>C (hg19) ; chr5:g.149895265A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895265A>C , CM000667.2:g.149895265A>C	GRCh38
NC_000005.9:g.149274828A>C , CM000667.1:g.149274828A>C	GRCh37
NC_000005.8:g.149255021A>C	NCBI36
NG_009102.1:g.54529T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1646T>G MANE Select	ENSP00000255266.5:p.Leu549Arg
ENST00000255266.9:c.1646T>G	ENSP00000255266.5:p.Leu549Arg
ENST00000508173.5:n.1830T>G
ENST00000613228.1:c.1403T>G	ENSP00000478060.1:p.Leu468Arg
ENST00000617647.4:c.1403T>G	ENSP00000482774.1:p.Leu468Arg
NM_000440.2:c.1646T>G	NP_000431.2:p.Leu549Arg
XM_011537648.1:c.1646T>G	XP_011535950.1:p.Leu549Arg
XM_011537649.1:c.1100T>G	XP_011535951.1:p.Leu367Arg
XM_011537650.1:c.761T>G	XP_011535952.1:p.Leu254Arg
XM_011537651.1:c.599T>G	XP_011535953.1:p.Leu200Arg
XM_011537652.1:c.569T>G	XP_011535954.1:p.Leu190Arg
XM_011537653.1:c.569T>G	XP_011535955.1:p.Leu190Arg
XM_011537654.1:c.569T>G	XP_011535956.1:p.Leu190Arg
XM_011537650.2:c.761T>G	XP_011535952.1:p.Leu254Arg
XM_011537651.2:c.599T>G	XP_011535953.1:p.Leu200Arg
XM_011537653.2:c.569T>G	XP_011535955.1:p.Leu190Arg
XM_011537654.2:c.569T>G	XP_011535956.1:p.Leu190Arg
XM_017009572.2:c.1403T>G	XP_016865061.1:p.Leu468Arg
NM_000440.3:c.1646T>G MANE Select	NP_000431.2:p.Leu549Arg