Canonical Allele Identifier: CA361695220

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274835A>T (hg19) ; chr5:g.149895272A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895272A>T , CM000667.2:g.149895272A>T	GRCh38
NC_000005.9:g.149274835A>T , CM000667.1:g.149274835A>T	GRCh37
NC_000005.8:g.149255028A>T	NCBI36
NG_009102.1:g.54522T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1639T>A MANE Select	ENSP00000255266.5:p.Tyr547Asn
ENST00000255266.9:c.1639T>A	ENSP00000255266.5:p.Tyr547Asn
ENST00000508173.5:n.1823T>A
ENST00000613228.1:c.1396T>A	ENSP00000478060.1:p.Tyr466Asn
ENST00000617647.4:c.1396T>A	ENSP00000482774.1:p.Tyr466Asn
NM_000440.2:c.1639T>A	NP_000431.2:p.Tyr547Asn
XM_011537648.1:c.1639T>A	XP_011535950.1:p.Tyr547Asn
XM_011537649.1:c.1093T>A	XP_011535951.1:p.Tyr365Asn
XM_011537650.1:c.754T>A	XP_011535952.1:p.Tyr252Asn
XM_011537651.1:c.592T>A	XP_011535953.1:p.Tyr198Asn
XM_011537652.1:c.562T>A	XP_011535954.1:p.Tyr188Asn
XM_011537653.1:c.562T>A	XP_011535955.1:p.Tyr188Asn
XM_011537654.1:c.562T>A	XP_011535956.1:p.Tyr188Asn
XM_011537650.2:c.754T>A	XP_011535952.1:p.Tyr252Asn
XM_011537651.2:c.592T>A	XP_011535953.1:p.Tyr198Asn
XM_011537653.2:c.562T>A	XP_011535955.1:p.Tyr188Asn
XM_011537654.2:c.562T>A	XP_011535956.1:p.Tyr188Asn
XM_017009572.2:c.1396T>A	XP_016865061.1:p.Tyr466Asn
NM_000440.3:c.1639T>A MANE Select	NP_000431.2:p.Tyr547Asn