Canonical Allele Identifier: CA361695217

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274834T>A (hg19) ; chr5:g.149895271T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895271T>A , CM000667.2:g.149895271T>A	GRCh38
NC_000005.9:g.149274834T>A , CM000667.1:g.149274834T>A	GRCh37
NC_000005.8:g.149255027T>A	NCBI36
NG_009102.1:g.54523A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1640A>T MANE Select	ENSP00000255266.5:p.Tyr547Phe
ENST00000255266.9:c.1640A>T	ENSP00000255266.5:p.Tyr547Phe
ENST00000508173.5:n.1824A>T
ENST00000613228.1:c.1397A>T	ENSP00000478060.1:p.Tyr466Phe
ENST00000617647.4:c.1397A>T	ENSP00000482774.1:p.Tyr466Phe
NM_000440.2:c.1640A>T	NP_000431.2:p.Tyr547Phe
XM_011537648.1:c.1640A>T	XP_011535950.1:p.Tyr547Phe
XM_011537649.1:c.1094A>T	XP_011535951.1:p.Tyr365Phe
XM_011537650.1:c.755A>T	XP_011535952.1:p.Tyr252Phe
XM_011537651.1:c.593A>T	XP_011535953.1:p.Tyr198Phe
XM_011537652.1:c.563A>T	XP_011535954.1:p.Tyr188Phe
XM_011537653.1:c.563A>T	XP_011535955.1:p.Tyr188Phe
XM_011537654.1:c.563A>T	XP_011535956.1:p.Tyr188Phe
XM_011537650.2:c.755A>T	XP_011535952.1:p.Tyr252Phe
XM_011537651.2:c.593A>T	XP_011535953.1:p.Tyr198Phe
XM_011537653.2:c.563A>T	XP_011535955.1:p.Tyr188Phe
XM_011537654.2:c.563A>T	XP_011535956.1:p.Tyr188Phe
XM_017009572.2:c.1397A>T	XP_016865061.1:p.Tyr466Phe
NM_000440.3:c.1640A>T MANE Select	NP_000431.2:p.Tyr547Phe