Canonical Allele Identifier: CA361695163

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274807A>C (hg19) ; chr5:g.149895244A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895244A>C , CM000667.2:g.149895244A>C	GRCh38
NC_000005.9:g.149274807A>C , CM000667.1:g.149274807A>C	GRCh37
NC_000005.8:g.149255000A>C	NCBI36
NG_009102.1:g.54550T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1667T>G MANE Select	ENSP00000255266.5:p.Ile556Ser
ENST00000255266.9:c.1667T>G	ENSP00000255266.5:p.Ile556Ser
ENST00000508173.5:n.1851T>G
ENST00000613228.1:c.1424T>G	ENSP00000478060.1:p.Ile475Ser
ENST00000617647.4:c.1424T>G	ENSP00000482774.1:p.Ile475Ser
NM_000440.2:c.1667T>G	NP_000431.2:p.Ile556Ser
XM_011537648.1:c.1667T>G	XP_011535950.1:p.Ile556Ser
XM_011537649.1:c.1121T>G	XP_011535951.1:p.Ile374Ser
XM_011537650.1:c.782T>G	XP_011535952.1:p.Ile261Ser
XM_011537651.1:c.620T>G	XP_011535953.1:p.Ile207Ser
XM_011537652.1:c.590T>G	XP_011535954.1:p.Ile197Ser
XM_011537653.1:c.590T>G	XP_011535955.1:p.Ile197Ser
XM_011537654.1:c.590T>G	XP_011535956.1:p.Ile197Ser
XM_011537650.2:c.782T>G	XP_011535952.1:p.Ile261Ser
XM_011537651.2:c.620T>G	XP_011535953.1:p.Ile207Ser
XM_011537653.2:c.590T>G	XP_011535955.1:p.Ile197Ser
XM_011537654.2:c.590T>G	XP_011535956.1:p.Ile197Ser
XM_017009572.2:c.1424T>G	XP_016865061.1:p.Ile475Ser
NM_000440.3:c.1667T>G MANE Select	NP_000431.2:p.Ile556Ser