Canonical Allele Identifier: CA1590704123
Gene: PDE6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149896986T= , CM000667.2:g.149896986T= GRCh38
NC_000005.9:g.149276549T= , CM000667.1:g.149276549T= GRCh37
NC_000005.8:g.149256742T= NCBI36
NG_009102.1:g.52808A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000255266.10:c.1408-210A= MANE Select ENSP00000255266.5:n.1408-210A=
ENST00000255266.9:c.1408-210A= ENSP00000255266.5:n.1408-210A=
ENST00000508173.5:n.1384-210A=
ENST00000613228.1:c.1165-210A= ENSP00000478060.1:n.1165-210A=
ENST00000617647.4:c.1165-210A= ENSP00000482774.1:n.1165-210A=
NM_000440.2:c.1408-210A= NP_000431.2:n.1408-210A=
XM_011537648.1:c.1408-210A= XP_011535950.1:n.1408-210A=
XM_011537649.1:c.862-210A= XP_011535951.1:n.862-210A=
XM_011537650.1:c.523-210A= XP_011535952.1:n.523-210A=
XM_011537651.1:c.361-210A= XP_011535953.1:n.361-210A=
XM_011537652.1:c.331-210A= XP_011535954.1:n.331-210A=
XM_011537653.1:c.331-210A= XP_011535955.1:n.331-210A=
XM_011537654.1:c.331-210A= XP_011535956.1:n.331-210A=
XM_011537650.2:c.523-210A= XP_011535952.1:n.523-210A=
XM_011537651.2:c.361-210A= XP_011535953.1:n.361-210A=
XM_011537653.2:c.331-210A= XP_011535955.1:n.331-210A=
XM_011537654.2:c.331-210A= XP_011535956.1:n.331-210A=
XM_017009572.2:c.1165-210A= XP_016865061.1:n.1165-210A=
NM_000440.3:c.1408-210A= MANE Select NP_000431.2:n.1408-210A=