Canonical Allele Identifier: CA361692663
Gene: PDE6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149883518T>A , CM000667.2:g.149883518T>A GRCh38
NC_000005.9:g.149263081T>A , CM000667.1:g.149263081T>A GRCh37
NC_000005.8:g.149243274T>A NCBI36
NG_009102.1:g.66276A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255266.10:c.2046A>T MANE Select ENSP00000255266.5:p.Gln682His
ENST00000255266.9:c.2046A>T ENSP00000255266.5:p.Gln682His
ENST00000508173.5:n.2230A>T
ENST00000613228.1:c.1803A>T ENSP00000478060.1:p.Gln601His
ENST00000617647.4:c.1803A>T ENSP00000482774.1:p.Gln601His
NM_000440.2:c.2046A>T NP_000431.2:p.Gln682His
XM_011537648.1:c.2046A>T XP_011535950.1:p.Gln682His
XM_011537649.1:c.1500A>T XP_011535951.1:p.Gln500His
XM_011537650.1:c.1161A>T XP_011535952.1:p.Gln387His
XM_011537651.1:c.999A>T XP_011535953.1:p.Gln333His
XM_011537652.1:c.969A>T XP_011535954.1:p.Gln323His
XM_011537653.1:c.969A>T XP_011535955.1:p.Gln323His
XM_011537654.1:c.969A>T XP_011535956.1:p.Gln323His
XM_011537650.2:c.1161A>T XP_011535952.1:p.Gln387His
XM_011537651.2:c.999A>T XP_011535953.1:p.Gln333His
XM_011537653.2:c.969A>T XP_011535955.1:p.Gln323His
XM_011537654.2:c.969A>T XP_011535956.1:p.Gln323His
XM_017009572.2:c.1803A>T XP_016865061.1:p.Gln601His
NM_000440.3:c.2046A>T MANE Select NP_000431.2:p.Gln682His