Canonical Allele Identifier: CA361695251

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274850G>C (hg19) ; chr5:g.149895287G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895287G>C , CM000667.2:g.149895287G>C	GRCh38
NC_000005.9:g.149274850G>C , CM000667.1:g.149274850G>C	GRCh37
NC_000005.8:g.149255043G>C	NCBI36
NG_009102.1:g.54507C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1624C>G MANE Select	ENSP00000255266.5:p.Leu542Val
ENST00000255266.9:c.1624C>G	ENSP00000255266.5:p.Leu542Val
ENST00000508173.5:n.1808C>G
ENST00000613228.1:c.1381C>G	ENSP00000478060.1:p.Leu461Val
ENST00000617647.4:c.1381C>G	ENSP00000482774.1:p.Leu461Val
NM_000440.2:c.1624C>G	NP_000431.2:p.Leu542Val
XM_011537648.1:c.1624C>G	XP_011535950.1:p.Leu542Val
XM_011537649.1:c.1078C>G	XP_011535951.1:p.Leu360Val
XM_011537650.1:c.739C>G	XP_011535952.1:p.Leu247Val
XM_011537651.1:c.577C>G	XP_011535953.1:p.Leu193Val
XM_011537652.1:c.547C>G	XP_011535954.1:p.Leu183Val
XM_011537653.1:c.547C>G	XP_011535955.1:p.Leu183Val
XM_011537654.1:c.547C>G	XP_011535956.1:p.Leu183Val
XM_011537650.2:c.739C>G	XP_011535952.1:p.Leu247Val
XM_011537651.2:c.577C>G	XP_011535953.1:p.Leu193Val
XM_011537653.2:c.547C>G	XP_011535955.1:p.Leu183Val
XM_011537654.2:c.547C>G	XP_011535956.1:p.Leu183Val
XM_017009572.2:c.1381C>G	XP_016865061.1:p.Leu461Val
NM_000440.3:c.1624C>G MANE Select	NP_000431.2:p.Leu542Val