Canonical Allele Identifier: CA361698764

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149907323G>A , CM000667.2:g.149907323G>A	GRCh38
NC_000005.9:g.149286886G>A , CM000667.1:g.149286886G>A	GRCh37
NC_000005.8:g.149267079G>A	NCBI36
NG_009102.1:g.42471C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.1054C>T MANE Select	NP_000431.2:p.Gln352Ter
ENST00000255266.10:c.1054C>T MANE Select	ENSP00000255266.5:p.Gln352Ter
NM_000440.2:c.1054C>T	NP_000431.2:p.Gln352Ter
ENST00000255266.9:c.1054C>T	ENSP00000255266.5:p.Gln352Ter
ENST00000508173.5:n.1174C>T
ENST00000613228.1:c.811C>T	ENSP00000478060.1:p.Gln271Ter
ENST00000617647.4:c.811C>T	ENSP00000482774.1:p.Gln271Ter
XM_011537648.1:c.1054C>T	XP_011535950.1:p.Gln352Ter
XM_011537649.1:c.508C>T	XP_011535951.1:p.Gln170Ter
XM_011537650.1:c.169C>T	XP_011535952.1:p.Gln57Ter
XM_011537650.2:c.169C>T	XP_011535952.1:p.Gln57Ter
XM_011537652.1:c.-190C>T	XP_011535954.1:n.-190C>T
XM_017009572.2:c.811C>T	XP_016865061.1:p.Gln271Ter