Canonical Allele Identifier: CA361695168

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274808T>G (hg19) ; chr5:g.149895245T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895245T>G , CM000667.2:g.149895245T>G	GRCh38
NC_000005.9:g.149274808T>G , CM000667.1:g.149274808T>G	GRCh37
NC_000005.8:g.149255001T>G	NCBI36
NG_009102.1:g.54549A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1666A>C MANE Select	ENSP00000255266.5:p.Ile556Leu
ENST00000255266.9:c.1666A>C	ENSP00000255266.5:p.Ile556Leu
ENST00000508173.5:n.1850A>C
ENST00000613228.1:c.1423A>C	ENSP00000478060.1:p.Ile475Leu
ENST00000617647.4:c.1423A>C	ENSP00000482774.1:p.Ile475Leu
NM_000440.2:c.1666A>C	NP_000431.2:p.Ile556Leu
XM_011537648.1:c.1666A>C	XP_011535950.1:p.Ile556Leu
XM_011537649.1:c.1120A>C	XP_011535951.1:p.Ile374Leu
XM_011537650.1:c.781A>C	XP_011535952.1:p.Ile261Leu
XM_011537651.1:c.619A>C	XP_011535953.1:p.Ile207Leu
XM_011537652.1:c.589A>C	XP_011535954.1:p.Ile197Leu
XM_011537653.1:c.589A>C	XP_011535955.1:p.Ile197Leu
XM_011537654.1:c.589A>C	XP_011535956.1:p.Ile197Leu
XM_011537650.2:c.781A>C	XP_011535952.1:p.Ile261Leu
XM_011537651.2:c.619A>C	XP_011535953.1:p.Ile207Leu
XM_011537653.2:c.589A>C	XP_011535955.1:p.Ile197Leu
XM_011537654.2:c.589A>C	XP_011535956.1:p.Ile197Leu
XM_017009572.2:c.1423A>C	XP_016865061.1:p.Ile475Leu
NM_000440.3:c.1666A>C MANE Select	NP_000431.2:p.Ile556Leu