Canonical Allele Identifier: CA247977

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149899424T>C , CM000667.2:g.149899424T>C	GRCh38
NC_000005.9:g.149278987T>C , CM000667.1:g.149278987T>C	GRCh37
NC_000005.8:g.149259180T>C	NCBI36
NG_009102.1:g.50370A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.1214A>G MANE Select	NP_000431.2:p.Asn405Ser
ENST00000255266.10:c.1214A>G MANE Select	ENSP00000255266.5:p.Asn405Ser
NM_000440.2:c.1214A>G	NP_000431.2:p.Asn405Ser
ENST00000255266.9:c.1214A>G	ENSP00000255266.5:p.Asn405Ser
ENST00000508173.5:n.1334A>G
ENST00000613228.1:c.971A>G	ENSP00000478060.1:p.Asn324Ser
ENST00000617647.4:c.971A>G	ENSP00000482774.1:p.Asn324Ser
XM_011537648.1:c.1214A>G	XP_011535950.1:p.Asn405Ser
XM_011537649.1:c.668A>G	XP_011535951.1:p.Asn223Ser
XM_011537650.1:c.329A>G	XP_011535952.1:p.Asn110Ser
XM_011537650.2:c.329A>G	XP_011535952.1:p.Asn110Ser
XM_011537651.1:c.167A>G	XP_011535953.1:p.Asn56Ser
XM_011537651.2:c.167A>G	XP_011535953.1:p.Asn56Ser
XM_011537652.1:c.137A>G	XP_011535954.1:p.Asn46Ser
XM_011537653.1:c.137A>G	XP_011535955.1:p.Asn46Ser
XM_011537653.2:c.137A>G	XP_011535955.1:p.Asn46Ser
XM_011537654.1:c.137A>G	XP_011535956.1:p.Asn46Ser
XM_011537654.2:c.137A>G	XP_011535956.1:p.Asn46Ser
XM_017009572.2:c.971A>G	XP_016865061.1:p.Asn324Ser