Canonical Allele Identifier: CA2675941091

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149895155-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895155C>A , CM000667.2:g.149895155C>A	GRCh38
NC_000005.9:g.149274718C>A , CM000667.1:g.149274718C>A	GRCh37
NC_000005.8:g.149254911C>A	NCBI36
NG_009102.1:g.54639G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1728+28G>T MANE Select	ENSP00000255266.5:n.1728+28G>T
ENST00000255266.9:c.1728+28G>T	ENSP00000255266.5:n.1728+28G>T
ENST00000508173.5:n.1912+28G>T
ENST00000613228.1:c.1485+28G>T	ENSP00000478060.1:n.1485+28G>T
ENST00000617647.4:c.1485+28G>T	ENSP00000482774.1:n.1485+28G>T
NM_000440.2:c.1728+28G>T	NP_000431.2:n.1728+28G>T
XM_011537648.1:c.1728+28G>T	XP_011535950.1:n.1728+28G>T
XM_011537649.1:c.1182+28G>T	XP_011535951.1:n.1182+28G>T
XM_011537650.1:c.843+28G>T	XP_011535952.1:n.843+28G>T
XM_011537651.1:c.681+28G>T	XP_011535953.1:n.681+28G>T
XM_011537652.1:c.651+28G>T	XP_011535954.1:n.651+28G>T
XM_011537653.1:c.651+28G>T	XP_011535955.1:n.651+28G>T
XM_011537654.1:c.651+28G>T	XP_011535956.1:n.651+28G>T
XM_011537650.2:c.843+28G>T	XP_011535952.1:n.843+28G>T
XM_011537651.2:c.681+28G>T	XP_011535953.1:n.681+28G>T
XM_011537653.2:c.651+28G>T	XP_011535955.1:n.651+28G>T
XM_011537654.2:c.651+28G>T	XP_011535956.1:n.651+28G>T
XM_017009572.2:c.1485+28G>T	XP_016865061.1:n.1485+28G>T
NM_000440.3:c.1728+28G>T MANE Select	NP_000431.2:n.1728+28G>T