Canonical Allele Identifier: CA384023903
Gene: PDE6H HGNC NCBI

Linked Data

ClinVar Variation Id: 2313402
ClinVar RCV Id: RCV004156671
dbSNP Id: rs1864623745
MyVariant Identifiers: chr12:g.15130999C>T (hg19) chr12:g.14978065C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978065C>T , CM000674.2:g.14978065C>T GRCh38
NC_000012.11:g.15130999C>T , CM000674.1:g.15130999C>T GRCh37
NC_000012.10:g.15022266C>T NCBI36
NG_016859.1:g.10044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.53C>T MANE Select ENSP00000266395.2:p.Thr18Ile
ENST00000266395.2:c.53C>T ENSP00000266395.2:p.Thr18Ile
NM_006205.2:c.53C>T NP_006196.1:p.Thr18Ile
XR_931376.1:n.175+11422G>A
XM_017019431.2:c.53C>T XP_016874920.1:p.Thr18Ile
XR_931376.2:n.389+11422G>A
NM_006205.3:c.53C>T MANE Select NP_006196.1:p.Thr18Ile
Search 100 bp 5'
Search 100 bp 3'