Canonical Allele Identifier: CA361695156

Gene: PDE6A

Linked Data

• dbSNP Id: rs1168935377
• gnomAD v4: 5-149895241-G-A
• MyVariant Identifiers: chr5:g.149274804G>A (hg19) ; chr5:g.149895241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895241G>A , CM000667.2:g.149895241G>A	GRCh38
NC_000005.9:g.149274804G>A , CM000667.1:g.149274804G>A	GRCh37
NC_000005.8:g.149254997G>A	NCBI36
NG_009102.1:g.54553C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1670C>T MANE Select	ENSP00000255266.5:p.Thr557Ile
ENST00000255266.9:c.1670C>T	ENSP00000255266.5:p.Thr557Ile
ENST00000508173.5:n.1854C>T
ENST00000613228.1:c.1427C>T	ENSP00000478060.1:p.Thr476Ile
ENST00000617647.4:c.1427C>T	ENSP00000482774.1:p.Thr476Ile
NM_000440.2:c.1670C>T	NP_000431.2:p.Thr557Ile
XM_011537648.1:c.1670C>T	XP_011535950.1:p.Thr557Ile
XM_011537649.1:c.1124C>T	XP_011535951.1:p.Thr375Ile
XM_011537650.1:c.785C>T	XP_011535952.1:p.Thr262Ile
XM_011537651.1:c.623C>T	XP_011535953.1:p.Thr208Ile
XM_011537652.1:c.593C>T	XP_011535954.1:p.Thr198Ile
XM_011537653.1:c.593C>T	XP_011535955.1:p.Thr198Ile
XM_011537654.1:c.593C>T	XP_011535956.1:p.Thr198Ile
XM_011537650.2:c.785C>T	XP_011535952.1:p.Thr262Ile
XM_011537651.2:c.623C>T	XP_011535953.1:p.Thr208Ile
XM_011537653.2:c.593C>T	XP_011535955.1:p.Thr198Ile
XM_011537654.2:c.593C>T	XP_011535956.1:p.Thr198Ile
XM_017009572.2:c.1427C>T	XP_016865061.1:p.Thr476Ile
NM_000440.3:c.1670C>T MANE Select	NP_000431.2:p.Thr557Ile