Canonical Allele Identifier: CA361695136

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 2301347
• ClinVar RCV Id: RCV002850554
• gnomAD v4: 5-149895232-T-C
• MyVariant Identifiers: chr5:g.149274795T>C (hg19) ; chr5:g.149895232T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895232T>C , CM000667.2:g.149895232T>C	GRCh38
NC_000005.9:g.149274795T>C , CM000667.1:g.149274795T>C	GRCh37
NC_000005.8:g.149254988T>C	NCBI36
NG_009102.1:g.54562A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1679A>G MANE Select	ENSP00000255266.5:p.Asn560Ser
ENST00000255266.9:c.1679A>G	ENSP00000255266.5:p.Asn560Ser
ENST00000508173.5:n.1863A>G
ENST00000613228.1:c.1436A>G	ENSP00000478060.1:p.Asn479Ser
ENST00000617647.4:c.1436A>G	ENSP00000482774.1:p.Asn479Ser
NM_000440.2:c.1679A>G	NP_000431.2:p.Asn560Ser
XM_011537648.1:c.1679A>G	XP_011535950.1:p.Asn560Ser
XM_011537649.1:c.1133A>G	XP_011535951.1:p.Asn378Ser
XM_011537650.1:c.794A>G	XP_011535952.1:p.Asn265Ser
XM_011537651.1:c.632A>G	XP_011535953.1:p.Asn211Ser
XM_011537652.1:c.602A>G	XP_011535954.1:p.Asn201Ser
XM_011537653.1:c.602A>G	XP_011535955.1:p.Asn201Ser
XM_011537654.1:c.602A>G	XP_011535956.1:p.Asn201Ser
XM_011537650.2:c.794A>G	XP_011535952.1:p.Asn265Ser
XM_011537651.2:c.632A>G	XP_011535953.1:p.Asn211Ser
XM_011537653.2:c.602A>G	XP_011535955.1:p.Asn201Ser
XM_011537654.2:c.602A>G	XP_011535956.1:p.Asn201Ser
XM_017009572.2:c.1436A>G	XP_016865061.1:p.Asn479Ser
NM_000440.3:c.1679A>G MANE Select	NP_000431.2:p.Asn560Ser