Canonical Allele Identifier: CA361692620

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149263074C>A (hg19) ; chr5:g.149883511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149883511C>A , CM000667.2:g.149883511C>A	GRCh38
NC_000005.9:g.149263074C>A , CM000667.1:g.149263074C>A	GRCh37
NC_000005.8:g.149243267C>A	NCBI36
NG_009102.1:g.66283G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.2053G>T MANE Select	ENSP00000255266.5:p.Val685Leu
ENST00000255266.9:c.2053G>T	ENSP00000255266.5:p.Val685Leu
ENST00000508173.5:n.2237G>T
ENST00000613228.1:c.1810G>T	ENSP00000478060.1:p.Val604Leu
ENST00000617647.4:c.1810G>T	ENSP00000482774.1:p.Val604Leu
NM_000440.2:c.2053G>T	NP_000431.2:p.Val685Leu
XM_011537648.1:c.2053G>T	XP_011535950.1:p.Val685Leu
XM_011537649.1:c.1507G>T	XP_011535951.1:p.Val503Leu
XM_011537650.1:c.1168G>T	XP_011535952.1:p.Val390Leu
XM_011537651.1:c.1006G>T	XP_011535953.1:p.Val336Leu
XM_011537652.1:c.976G>T	XP_011535954.1:p.Val326Leu
XM_011537653.1:c.976G>T	XP_011535955.1:p.Val326Leu
XM_011537654.1:c.976G>T	XP_011535956.1:p.Val326Leu
XM_011537650.2:c.1168G>T	XP_011535952.1:p.Val390Leu
XM_011537651.2:c.1006G>T	XP_011535953.1:p.Val336Leu
XM_011537653.2:c.976G>T	XP_011535955.1:p.Val326Leu
XM_011537654.2:c.976G>T	XP_011535956.1:p.Val326Leu
XM_017009572.2:c.1810G>T	XP_016865061.1:p.Val604Leu
NM_000440.3:c.2053G>T MANE Select	NP_000431.2:p.Val685Leu