Canonical Allele Identifier: CA233311871
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs535266740
gnomAD v2: 12-15130889-A-G
gnomAD v3: 12-14977955-A-G
gnomAD v4: 12-14977955-A-G
MyVariant Identifiers: chr12:g.15130889A>G (hg19) chr12:g.14977955A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977955A>G , CM000674.2:g.14977955A>G GRCh38
NC_000012.11:g.15130889A>G , CM000674.1:g.15130889A>G GRCh37
NC_000012.10:g.15022156A>G NCBI36
NG_016859.1:g.9934A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-17A>G MANE Select ENSP00000266395.2:n.-41-17A>G
ENST00000266395.2:c.-41-17A>G ENSP00000266395.2:n.-41-17A>G
NM_006205.2:c.-41-17A>G NP_006196.1:n.-41-17A>G
XR_931376.1:n.175+11532T>C
XM_017019431.2:c.-58A>G XP_016874920.1:n.-58A>G
XR_931376.2:n.389+11532T>C
NM_006205.3:c.-41-17A>G MANE Select NP_006196.1:n.-41-17A>G
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