Canonical Allele Identifier: CA3504570
Gene: PDE6A HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149895170G>A
GRCh37 chr5:g.149274733G>A
gnomAD v2:
5:149274733 G / A
gnomAD v3:
5:149895170 G / A
gnomAD v4:
chr5-149895170-G-A
Joint Max Group AF 0.00018927 (AFR)
Genomes Max Group AF 0.00011248 (AFR)
Exomes Max Group AF 0.00021184 (AFR)
ClinVar Allele:
896061
ClinVar RCV:
RCV001157993
RCV002070947
ClinVar Variation:
907857
dbSNP:
144868706
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149895170G>A , CM000667.2:g.149895170G>A GRCh38
NC_000005.9:g.149274733G>A , CM000667.1:g.149274733G>A GRCh37
NC_000005.8:g.149254926G>A NCBI36
NG_009102.1:g.54624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255266.10:c.1728+13C>T MANE Select ENSP00000255266.5:n.1728+13C>T
ENST00000255266.9:c.1728+13C>T ENSP00000255266.5:n.1728+13C>T
ENST00000508173.5:n.1912+13C>T
ENST00000613228.1:c.1485+13C>T ENSP00000478060.1:n.1485+13C>T
ENST00000617647.4:c.1485+13C>T ENSP00000482774.1:n.1485+13C>T
NM_000440.2:c.1728+13C>T NP_000431.2:n.1728+13C>T
XM_011537648.1:c.1728+13C>T XP_011535950.1:n.1728+13C>T
XM_011537649.1:c.1182+13C>T XP_011535951.1:n.1182+13C>T
XM_011537650.1:c.843+13C>T XP_011535952.1:n.843+13C>T
XM_011537651.1:c.681+13C>T XP_011535953.1:n.681+13C>T
XM_011537652.1:c.651+13C>T XP_011535954.1:n.651+13C>T
XM_011537653.1:c.651+13C>T XP_011535955.1:n.651+13C>T
XM_011537654.1:c.651+13C>T XP_011535956.1:n.651+13C>T
XM_011537650.2:c.843+13C>T XP_011535952.1:n.843+13C>T
XM_011537651.2:c.681+13C>T XP_011535953.1:n.681+13C>T
XM_011537653.2:c.651+13C>T XP_011535955.1:n.651+13C>T
XM_011537654.2:c.651+13C>T XP_011535956.1:n.651+13C>T
XM_017009572.2:c.1485+13C>T XP_016865061.1:n.1485+13C>T
NM_000440.3:c.1728+13C>T MANE Select NP_000431.2:n.1728+13C>T
Search 100 bp 5'
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