Canonical Allele Identifier: CA361695049

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274753A>T (hg19) ; chr5:g.149895190A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895190A>T , CM000667.2:g.149895190A>T	GRCh38
NC_000005.9:g.149274753A>T , CM000667.1:g.149274753A>T	GRCh37
NC_000005.8:g.149254946A>T	NCBI36
NG_009102.1:g.54604T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1721T>A MANE Select	ENSP00000255266.5:p.Leu574Gln
ENST00000255266.9:c.1721T>A	ENSP00000255266.5:p.Leu574Gln
ENST00000508173.5:n.1905T>A
ENST00000613228.1:c.1478T>A	ENSP00000478060.1:p.Leu493Gln
ENST00000617647.4:c.1478T>A	ENSP00000482774.1:p.Leu493Gln
NM_000440.2:c.1721T>A	NP_000431.2:p.Leu574Gln
XM_011537648.1:c.1721T>A	XP_011535950.1:p.Leu574Gln
XM_011537649.1:c.1175T>A	XP_011535951.1:p.Leu392Gln
XM_011537650.1:c.836T>A	XP_011535952.1:p.Leu279Gln
XM_011537651.1:c.674T>A	XP_011535953.1:p.Leu225Gln
XM_011537652.1:c.644T>A	XP_011535954.1:p.Leu215Gln
XM_011537653.1:c.644T>A	XP_011535955.1:p.Leu215Gln
XM_011537654.1:c.644T>A	XP_011535956.1:p.Leu215Gln
XM_011537650.2:c.836T>A	XP_011535952.1:p.Leu279Gln
XM_011537651.2:c.674T>A	XP_011535953.1:p.Leu225Gln
XM_011537653.2:c.644T>A	XP_011535955.1:p.Leu215Gln
XM_011537654.2:c.644T>A	XP_011535956.1:p.Leu215Gln
XM_017009572.2:c.1478T>A	XP_016865061.1:p.Leu493Gln
NM_000440.3:c.1721T>A MANE Select	NP_000431.2:p.Leu574Gln