Canonical Allele Identifier: CA2675940607

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149886258-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149886258G>T , CM000667.2:g.149886258G>T	GRCh38
NC_000005.9:g.149265821G>T , CM000667.1:g.149265821G>T	GRCh37
NC_000005.8:g.149246014G>T	NCBI36
NG_009102.1:g.63536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1838+7C>A MANE Select	ENSP00000255266.5:n.1838+7C>A
ENST00000255266.9:c.1838+7C>A	ENSP00000255266.5:n.1838+7C>A
ENST00000508173.5:n.2022+7C>A
ENST00000613228.1:c.1595+7C>A	ENSP00000478060.1:n.1595+7C>A
ENST00000617647.4:c.1595+7C>A	ENSP00000482774.1:n.1595+7C>A
NM_000440.2:c.1838+7C>A	NP_000431.2:n.1838+7C>A
XM_011537648.1:c.1838+7C>A	XP_011535950.1:n.1838+7C>A
XM_011537649.1:c.1292+7C>A	XP_011535951.1:n.1292+7C>A
XM_011537650.1:c.953+7C>A	XP_011535952.1:n.953+7C>A
XM_011537651.1:c.791+7C>A	XP_011535953.1:n.791+7C>A
XM_011537652.1:c.761+7C>A	XP_011535954.1:n.761+7C>A
XM_011537653.1:c.761+7C>A	XP_011535955.1:n.761+7C>A
XM_011537654.1:c.761+7C>A	XP_011535956.1:n.761+7C>A
XM_011537650.2:c.953+7C>A	XP_011535952.1:n.953+7C>A
XM_011537651.2:c.791+7C>A	XP_011535953.1:n.791+7C>A
XM_011537653.2:c.761+7C>A	XP_011535955.1:n.761+7C>A
XM_011537654.2:c.761+7C>A	XP_011535956.1:n.761+7C>A
XM_017009572.2:c.1595+7C>A	XP_016865061.1:n.1595+7C>A
NM_000440.3:c.1838+7C>A MANE Select	NP_000431.2:n.1838+7C>A