Canonical Allele Identifier: CA3505078

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149944358C>T , CM000667.2:g.149944358C>T	GRCh38
NC_000005.9:g.149323921C>T , CM000667.1:g.149323921C>T	GRCh37
NC_000005.8:g.149304114C>T	NCBI36
NG_009102.1:g.5436G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.316G>A MANE Select	NP_000431.2:p.Ala106Thr
ENST00000255266.10:c.316G>A MANE Select	ENSP00000255266.5:p.Ala106Thr
NM_000440.2:c.316G>A	NP_000431.2:p.Ala106Thr
ENST00000255266.9:c.316G>A	ENSP00000255266.5:p.Ala106Thr
ENST00000508173.5:n.436G>A
ENST00000613228.1:c.316G>A	ENSP00000478060.1:p.Ala106Thr
ENST00000617647.4:c.316G>A	ENSP00000482774.1:p.Ala106Thr
XM_011537648.1:c.316G>A	XP_011535950.1:p.Ala106Thr
XM_011537649.1:c.-72-9640G>A	XP_011535951.1:n.-72-9640G>A
XM_017009572.2:c.316G>A	XP_016865061.1:p.Ala106Thr