Canonical Allele Identifier: CA129075651

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149903449T>C , CM000667.2:g.149903449T>C	GRCh38
NC_000005.9:g.149283012T>C , CM000667.1:g.149283012T>C	GRCh37
NC_000005.8:g.149263205T>C	NCBI36
NG_009102.1:g.46345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1113+199A>G MANE Select	ENSP00000255266.5:n.1113+199A>G
ENST00000255266.9:c.1113+199A>G	ENSP00000255266.5:n.1113+199A>G
ENST00000508173.5:n.1233+199A>G
ENST00000613228.1:c.870+199A>G	ENSP00000478060.1:n.870+199A>G
ENST00000617647.4:c.870+199A>G	ENSP00000482774.1:n.870+199A>G
NM_000440.2:c.1113+199A>G	NP_000431.2:n.1113+199A>G
XM_011537648.1:c.1113+199A>G	XP_011535950.1:n.1113+199A>G
XM_011537649.1:c.567+199A>G	XP_011535951.1:n.567+199A>G
XM_011537650.1:c.228+199A>G	XP_011535952.1:n.228+199A>G
XM_011537651.1:c.66+199A>G	XP_011535953.1:n.66+199A>G
XM_011537652.1:c.36+199A>G	XP_011535954.1:n.36+199A>G
XM_011537653.1:c.36+199A>G	XP_011535955.1:n.36+199A>G
XM_011537654.1:c.36+199A>G	XP_011535956.1:n.36+199A>G
XM_011537650.2:c.228+199A>G	XP_011535952.1:n.228+199A>G
XM_011537651.2:c.66+199A>G	XP_011535953.1:n.66+199A>G
XM_011537653.2:c.36+199A>G	XP_011535955.1:n.36+199A>G
XM_011537654.2:c.36+199A>G	XP_011535956.1:n.36+199A>G
XM_017009572.2:c.870+199A>G	XP_016865061.1:n.870+199A>G
NM_000440.3:c.1113+199A>G MANE Select	NP_000431.2:n.1113+199A>G