Canonical Allele Identifier: CA384023904
Gene: PDE6H HGNC NCBI

Linked Data

gnomAD v4: 12-14978067-C-A
COSMIC: COSM693024
MyVariant Identifiers: chr12:g.15131001C>A (hg19) chr12:g.14978067C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978067C>A , CM000674.2:g.14978067C>A GRCh38
NC_000012.11:g.15131001C>A , CM000674.1:g.15131001C>A GRCh37
NC_000012.10:g.15022268C>A NCBI36
NG_016859.1:g.10046C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.55C>A MANE Select ENSP00000266395.2:p.Pro19Thr
ENST00000266395.2:c.55C>A ENSP00000266395.2:p.Pro19Thr
NM_006205.2:c.55C>A NP_006196.1:p.Pro19Thr
XR_931376.1:n.175+11420G>T
XM_017019431.2:c.55C>A XP_016874920.1:p.Pro19Thr
XR_931376.2:n.389+11420G>T
NM_006205.3:c.55C>A MANE Select NP_006196.1:p.Pro19Thr
Search 100 bp 5'
Search 100 bp 3'