Canonical Allele Identifier: CA361695178

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274815G>C (hg19) ; chr5:g.149895252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895252G>C , CM000667.2:g.149895252G>C	GRCh38
NC_000005.9:g.149274815G>C , CM000667.1:g.149274815G>C	GRCh37
NC_000005.8:g.149255008G>C	NCBI36
NG_009102.1:g.54542C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1659C>G MANE Select	ENSP00000255266.5:p.Tyr553Ter
ENST00000255266.9:c.1659C>G	ENSP00000255266.5:p.Tyr553Ter
ENST00000508173.5:n.1843C>G
ENST00000613228.1:c.1416C>G	ENSP00000478060.1:p.Tyr472Ter
ENST00000617647.4:c.1416C>G	ENSP00000482774.1:p.Tyr472Ter
NM_000440.2:c.1659C>G	NP_000431.2:p.Tyr553Ter
XM_011537648.1:c.1659C>G	XP_011535950.1:p.Tyr553Ter
XM_011537649.1:c.1113C>G	XP_011535951.1:p.Tyr371Ter
XM_011537650.1:c.774C>G	XP_011535952.1:p.Tyr258Ter
XM_011537651.1:c.612C>G	XP_011535953.1:p.Tyr204Ter
XM_011537652.1:c.582C>G	XP_011535954.1:p.Tyr194Ter
XM_011537653.1:c.582C>G	XP_011535955.1:p.Tyr194Ter
XM_011537654.1:c.582C>G	XP_011535956.1:p.Tyr194Ter
XM_011537650.2:c.774C>G	XP_011535952.1:p.Tyr258Ter
XM_011537651.2:c.612C>G	XP_011535953.1:p.Tyr204Ter
XM_011537653.2:c.582C>G	XP_011535955.1:p.Tyr194Ter
XM_011537654.2:c.582C>G	XP_011535956.1:p.Tyr194Ter
XM_017009572.2:c.1416C>G	XP_016865061.1:p.Tyr472Ter
NM_000440.3:c.1659C>G MANE Select	NP_000431.2:p.Tyr553Ter