Canonical Allele Identifier: CA384025627
Gene: PDE6H HGNC NCBI

Linked Data

ClinVar Variation Id: 450247
ClinVar RCV Id: RCV000520860
dbSNP Id: rs1421690648
gnomAD v4: 12-14981471-A-C
MyVariant Identifiers: chr12:g.15134405A>C (hg19) chr12:g.14981471A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14981471A>C , CM000674.2:g.14981471A>C GRCh38
NC_000012.11:g.15134405A>C , CM000674.1:g.15134405A>C GRCh37
NC_000012.10:g.15025672A>C NCBI36
NG_016859.1:g.13450A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.247A>C MANE Select ENSP00000266395.2:p.Ile83Leu
ENST00000266395.2:c.247A>C ENSP00000266395.2:p.Ile83Leu
NM_006205.2:c.247A>C NP_006196.1:p.Ile83Leu
XR_931376.1:n.175+8016T>G
XM_017019431.2:c.247A>C XP_016874920.1:p.Ile83Leu
XR_931376.2:n.389+8016T>G
NM_006205.3:c.247A>C MANE Select NP_006196.1:p.Ile83Leu
Search 100 bp 5'
Search 100 bp 3'