Canonical Allele Identifier: CA361695177

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274814G>T (hg19) ; chr5:g.149895251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895251G>T , CM000667.2:g.149895251G>T	GRCh38
NC_000005.9:g.149274814G>T , CM000667.1:g.149274814G>T	GRCh37
NC_000005.8:g.149255007G>T	NCBI36
NG_009102.1:g.54543C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1660C>A MANE Select	ENSP00000255266.5:p.Arg554Ser
ENST00000255266.9:c.1660C>A	ENSP00000255266.5:p.Arg554Ser
ENST00000508173.5:n.1844C>A
ENST00000613228.1:c.1417C>A	ENSP00000478060.1:p.Arg473Ser
ENST00000617647.4:c.1417C>A	ENSP00000482774.1:p.Arg473Ser
NM_000440.2:c.1660C>A	NP_000431.2:p.Arg554Ser
XM_011537648.1:c.1660C>A	XP_011535950.1:p.Arg554Ser
XM_011537649.1:c.1114C>A	XP_011535951.1:p.Arg372Ser
XM_011537650.1:c.775C>A	XP_011535952.1:p.Arg259Ser
XM_011537651.1:c.613C>A	XP_011535953.1:p.Arg205Ser
XM_011537652.1:c.583C>A	XP_011535954.1:p.Arg195Ser
XM_011537653.1:c.583C>A	XP_011535955.1:p.Arg195Ser
XM_011537654.1:c.583C>A	XP_011535956.1:p.Arg195Ser
XM_011537650.2:c.775C>A	XP_011535952.1:p.Arg259Ser
XM_011537651.2:c.613C>A	XP_011535953.1:p.Arg205Ser
XM_011537653.2:c.583C>A	XP_011535955.1:p.Arg195Ser
XM_011537654.2:c.583C>A	XP_011535956.1:p.Arg195Ser
XM_017009572.2:c.1417C>A	XP_016865061.1:p.Arg473Ser
NM_000440.3:c.1660C>A MANE Select	NP_000431.2:p.Arg554Ser