Canonical Allele Identifier: CA3504596

Gene: PDE6A

Linked Data

• dbSNP Id: rs772153983
• ExAC: 5:149274802 A / G
• gnomAD v2: 5-149274802-A-G
• gnomAD v3: 5-149895239-A-G
• gnomAD v4: 5-149895239-A-G
• MyVariant Identifiers: chr5:g.149274802A>G (hg19) ; chr5:g.149895239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895239A>G , CM000667.2:g.149895239A>G	GRCh38
NC_000005.9:g.149274802A>G , CM000667.1:g.149274802A>G	GRCh37
NC_000005.8:g.149254995A>G	NCBI36
NG_009102.1:g.54555T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1672T>C MANE Select	ENSP00000255266.5:p.Tyr558His
ENST00000255266.9:c.1672T>C	ENSP00000255266.5:p.Tyr558His
ENST00000508173.5:n.1856T>C
ENST00000613228.1:c.1429T>C	ENSP00000478060.1:p.Tyr477His
ENST00000617647.4:c.1429T>C	ENSP00000482774.1:p.Tyr477His
NM_000440.2:c.1672T>C	NP_000431.2:p.Tyr558His
XM_011537648.1:c.1672T>C	XP_011535950.1:p.Tyr558His
XM_011537649.1:c.1126T>C	XP_011535951.1:p.Tyr376His
XM_011537650.1:c.787T>C	XP_011535952.1:p.Tyr263His
XM_011537651.1:c.625T>C	XP_011535953.1:p.Tyr209His
XM_011537652.1:c.595T>C	XP_011535954.1:p.Tyr199His
XM_011537653.1:c.595T>C	XP_011535955.1:p.Tyr199His
XM_011537654.1:c.595T>C	XP_011535956.1:p.Tyr199His
XM_011537650.2:c.787T>C	XP_011535952.1:p.Tyr263His
XM_011537651.2:c.625T>C	XP_011535953.1:p.Tyr209His
XM_011537653.2:c.595T>C	XP_011535955.1:p.Tyr199His
XM_011537654.2:c.595T>C	XP_011535956.1:p.Tyr199His
XM_017009572.2:c.1429T>C	XP_016865061.1:p.Tyr477His
NM_000440.3:c.1672T>C MANE Select	NP_000431.2:p.Tyr558His