Canonical Allele Identifier: CA361695101

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274778T>C (hg19) ; chr5:g.149895215T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895215T>C , CM000667.2:g.149895215T>C	GRCh38
NC_000005.9:g.149274778T>C , CM000667.1:g.149274778T>C	GRCh37
NC_000005.8:g.149254971T>C	NCBI36
NG_009102.1:g.54579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1696A>G MANE Select	ENSP00000255266.5:p.Asn566Asp
ENST00000255266.9:c.1696A>G	ENSP00000255266.5:p.Asn566Asp
ENST00000508173.5:n.1880A>G
ENST00000613228.1:c.1453A>G	ENSP00000478060.1:p.Asn485Asp
ENST00000617647.4:c.1453A>G	ENSP00000482774.1:p.Asn485Asp
NM_000440.2:c.1696A>G	NP_000431.2:p.Asn566Asp
XM_011537648.1:c.1696A>G	XP_011535950.1:p.Asn566Asp
XM_011537649.1:c.1150A>G	XP_011535951.1:p.Asn384Asp
XM_011537650.1:c.811A>G	XP_011535952.1:p.Asn271Asp
XM_011537651.1:c.649A>G	XP_011535953.1:p.Asn217Asp
XM_011537652.1:c.619A>G	XP_011535954.1:p.Asn207Asp
XM_011537653.1:c.619A>G	XP_011535955.1:p.Asn207Asp
XM_011537654.1:c.619A>G	XP_011535956.1:p.Asn207Asp
XM_011537650.2:c.811A>G	XP_011535952.1:p.Asn271Asp
XM_011537651.2:c.649A>G	XP_011535953.1:p.Asn217Asp
XM_011537653.2:c.619A>G	XP_011535955.1:p.Asn207Asp
XM_011537654.2:c.619A>G	XP_011535956.1:p.Asn207Asp
XM_017009572.2:c.1453A>G	XP_016865061.1:p.Asn485Asp
NM_000440.3:c.1696A>G MANE Select	NP_000431.2:p.Asn566Asp