Canonical Allele Identifier: CA3505070

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149944311G>A , CM000667.2:g.149944311G>A	GRCh38
NC_000005.9:g.149323874G>A , CM000667.1:g.149323874G>A	GRCh37
NC_000005.8:g.149304067G>A	NCBI36
NG_009102.1:g.5483C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.363C>T MANE Select	NP_000431.2:p.Leu121=
ENST00000255266.10:c.363C>T MANE Select	ENSP00000255266.5:p.Leu121=
NM_000440.2:c.363C>T	NP_000431.2:p.Leu121=
ENST00000255266.9:c.363C>T	ENSP00000255266.5:p.Leu121=
ENST00000508173.5:n.483C>T
ENST00000613228.1:c.363C>T	ENSP00000478060.1:p.Leu121=
ENST00000617647.4:c.363C>T	ENSP00000482774.1:p.Leu121=
XM_011537648.1:c.363C>T	XP_011535950.1:p.Leu121=
XM_011537649.1:c.-72-9593C>T	XP_011535951.1:n.-72-9593C>T
XM_017009572.2:c.363C>T	XP_016865061.1:p.Leu121=