Canonical Allele Identifier: CA384023914
Gene: PDE6H HGNC NCBI

Linked Data

ClinVar Variation Id: 1044479
ClinVar RCV Id: RCV001348726
dbSNP Id: rs1864624045
MyVariant Identifiers: chr12:g.15131007A>G (hg19) chr12:g.14978073A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978073A>G , CM000674.2:g.14978073A>G GRCh38
NC_000012.11:g.15131007A>G , CM000674.1:g.15131007A>G GRCh37
NC_000012.10:g.15022274A>G NCBI36
NG_016859.1:g.10052A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.61A>G MANE Select ENSP00000266395.2:p.Lys21Glu
ENST00000266395.2:c.61A>G ENSP00000266395.2:p.Lys21Glu
NM_006205.2:c.61A>G NP_006196.1:p.Lys21Glu
XR_931376.1:n.175+11414T>C
XM_017019431.2:c.61A>G XP_016874920.1:p.Lys21Glu
XR_931376.2:n.389+11414T>C
NM_006205.3:c.61A>G MANE Select NP_006196.1:p.Lys21Glu
Search 100 bp 5'
Search 100 bp 3'