Canonical Allele Identifier: CA361692691

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149263085A>C (hg19) ; chr5:g.149883522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149883522A>C , CM000667.2:g.149883522A>C	GRCh38
NC_000005.9:g.149263085A>C , CM000667.1:g.149263085A>C	GRCh37
NC_000005.8:g.149243278A>C	NCBI36
NG_009102.1:g.66272T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.2042T>G MANE Select	ENSP00000255266.5:p.Phe681Cys
ENST00000255266.9:c.2042T>G	ENSP00000255266.5:p.Phe681Cys
ENST00000508173.5:n.2226T>G
ENST00000613228.1:c.1799T>G	ENSP00000478060.1:p.Phe600Cys
ENST00000617647.4:c.1799T>G	ENSP00000482774.1:p.Phe600Cys
NM_000440.2:c.2042T>G	NP_000431.2:p.Phe681Cys
XM_011537648.1:c.2042T>G	XP_011535950.1:p.Phe681Cys
XM_011537649.1:c.1496T>G	XP_011535951.1:p.Phe499Cys
XM_011537650.1:c.1157T>G	XP_011535952.1:p.Phe386Cys
XM_011537651.1:c.995T>G	XP_011535953.1:p.Phe332Cys
XM_011537652.1:c.965T>G	XP_011535954.1:p.Phe322Cys
XM_011537653.1:c.965T>G	XP_011535955.1:p.Phe322Cys
XM_011537654.1:c.965T>G	XP_011535956.1:p.Phe322Cys
XM_011537650.2:c.1157T>G	XP_011535952.1:p.Phe386Cys
XM_011537651.2:c.995T>G	XP_011535953.1:p.Phe332Cys
XM_011537653.2:c.965T>G	XP_011535955.1:p.Phe322Cys
XM_011537654.2:c.965T>G	XP_011535956.1:p.Phe322Cys
XM_017009572.2:c.1799T>G	XP_016865061.1:p.Phe600Cys
NM_000440.3:c.2042T>G MANE Select	NP_000431.2:p.Phe681Cys