Canonical Allele Identifier: CA2793978

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 349308
• ClinVar RCV Id: RCV000288636 ; RCV000332008 ; RCV000785739 ; RCV001436063
• dbSNP Id: rs574098823
• ExAC: 4:628479 G / A
• gnomAD v2: 4-628479-G-A
• gnomAD v3: 4-634690-G-A
• gnomAD v4: 4-634690-G-A
• MyVariant Identifiers: chr4:g.628479G>A (hg19) ; chr4:g.634690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.634690G>A , CM000666.2:g.634690G>A	GRCh38
NC_000004.11:g.628479G>A , CM000666.1:g.628479G>A	GRCh37
NC_000004.10:g.618479G>A	NCBI36
NG_009839.1:g.14117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.482G>A MANE Select	ENSP00000420295.1:p.Ser161Asn
ENST00000255622.10:c.482G>A	ENSP00000255622.6:p.Ser161Asn
ENST00000496514.5:c.482G>A	ENSP00000420295.1:p.Ser161Asn
NM_000283.3:c.482G>A	NP_000274.2:p.Ser161Asn
NM_001145291.1:c.482G>A	NP_001138763.1:p.Ser161Asn
XM_011513473.1:c.701G>A	XP_011511775.1:p.Ser234Asn
XM_011513474.1:c.701G>A	XP_011511776.1:p.Ser234Asn
XM_011513475.1:c.482G>A	XP_011511777.1:p.Ser161Asn
XM_011513476.1:c.701G>A	XP_011511778.1:p.Ser234Asn
XM_011513473.3:c.701G>A	XP_011511775.1:p.Ser234Asn
XM_011513474.3:c.701G>A	XP_011511776.1:p.Ser234Asn
XM_011513475.2:c.482G>A	XP_011511777.1:p.Ser161Asn
XM_011513476.3:c.701G>A	XP_011511778.1:p.Ser234Asn
NM_000283.4:c.482G>A MANE Select	NP_000274.3:p.Ser161Asn
NM_001145291.2:c.482G>A	NP_001138763.2:p.Ser161Asn