Canonical Allele Identifier: CA361695189

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 1346653
• ClinVar RCV Id: RCV002030124
• dbSNP Id: rs1365595687
• gnomAD v2: 5-149274820-C-A
• gnomAD v3: 5-149895257-C-A
• gnomAD v4: 5-149895257-C-A
• MyVariant Identifiers: chr5:g.149274820C>A (hg19) ; chr5:g.149895257C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895257C>A , CM000667.2:g.149895257C>A	GRCh38
NC_000005.9:g.149274820C>A , CM000667.1:g.149274820C>A	GRCh37
NC_000005.8:g.149255013C>A	NCBI36
NG_009102.1:g.54537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1654G>T MANE Select	ENSP00000255266.5:p.Gly552Cys
ENST00000255266.9:c.1654G>T	ENSP00000255266.5:p.Gly552Cys
ENST00000508173.5:n.1838G>T
ENST00000613228.1:c.1411G>T	ENSP00000478060.1:p.Gly471Cys
ENST00000617647.4:c.1411G>T	ENSP00000482774.1:p.Gly471Cys
NM_000440.2:c.1654G>T	NP_000431.2:p.Gly552Cys
XM_011537648.1:c.1654G>T	XP_011535950.1:p.Gly552Cys
XM_011537649.1:c.1108G>T	XP_011535951.1:p.Gly370Cys
XM_011537650.1:c.769G>T	XP_011535952.1:p.Gly257Cys
XM_011537651.1:c.607G>T	XP_011535953.1:p.Gly203Cys
XM_011537652.1:c.577G>T	XP_011535954.1:p.Gly193Cys
XM_011537653.1:c.577G>T	XP_011535955.1:p.Gly193Cys
XM_011537654.1:c.577G>T	XP_011535956.1:p.Gly193Cys
XM_011537650.2:c.769G>T	XP_011535952.1:p.Gly257Cys
XM_011537651.2:c.607G>T	XP_011535953.1:p.Gly203Cys
XM_011537653.2:c.577G>T	XP_011535955.1:p.Gly193Cys
XM_011537654.2:c.577G>T	XP_011535956.1:p.Gly193Cys
XM_017009572.2:c.1411G>T	XP_016865061.1:p.Gly471Cys
NM_000440.3:c.1654G>T MANE Select	NP_000431.2:p.Gly552Cys