Canonical Allele Identifier: CA361698880

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149907380T>C , CM000667.2:g.149907380T>C	GRCh38
NC_000005.9:g.149286943T>C , CM000667.1:g.149286943T>C	GRCh37
NC_000005.8:g.149267136T>C	NCBI36
NG_009102.1:g.42414A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.999-2A>G MANE Select	NP_000431.2:n.999-2A>G
ENST00000255266.10:c.999-2A>G MANE Select	ENSP00000255266.5:n.999-2A>G
NM_000440.2:c.999-2A>G	NP_000431.2:n.999-2A>G
ENST00000255266.9:c.999-2A>G	ENSP00000255266.5:n.999-2A>G
ENST00000508173.5:n.1119-2A>G
ENST00000613228.1:c.756-2A>G	ENSP00000478060.1:n.756-2A>G
ENST00000617647.4:c.756-2A>G	ENSP00000482774.1:n.756-2A>G
XM_011537648.1:c.999-2A>G	XP_011535950.1:n.999-2A>G
XM_011537649.1:c.453-2A>G	XP_011535951.1:n.453-2A>G
XM_011537650.1:c.114-2A>G	XP_011535952.1:n.114-2A>G
XM_011537650.2:c.114-2A>G	XP_011535952.1:n.114-2A>G
XM_011537652.1:c.-245-2A>G	XP_011535954.1:n.-245-2A>G
XM_017009572.2:c.756-2A>G	XP_016865061.1:n.756-2A>G