Canonical Allele Identifier: CA6465848
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs776415034
ExAC: 12:15131039 T / A
gnomAD v2: 12-15131039-T-A
gnomAD v4: 12-14978105-T-A
MyVariant Identifiers: chr12:g.15131039T>A (hg19) chr12:g.14978105T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978105T>A , CM000674.2:g.14978105T>A GRCh38
NC_000012.11:g.15131039T>A , CM000674.1:g.15131039T>A GRCh37
NC_000012.10:g.15022306T>A NCBI36
NG_016859.1:g.10084T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.93T>A MANE Select ENSP00000266395.2:p.Thr31=
ENST00000266395.2:c.93T>A ENSP00000266395.2:p.Thr31=
NM_006205.2:c.93T>A NP_006196.1:p.Thr31=
XR_931376.1:n.175+11382A>T
XM_017019431.2:c.93T>A XP_016874920.1:p.Thr31=
XR_931376.2:n.389+11382A>T
NM_006205.3:c.93T>A MANE Select NP_006196.1:p.Thr31=
Search 100 bp 5'
Search 100 bp 3'