Canonical Allele Identifier: CA384024028
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15131047T>A (hg19) chr12:g.14978113T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978113T>A , CM000674.2:g.14978113T>A GRCh38
NC_000012.11:g.15131047T>A , CM000674.1:g.15131047T>A GRCh37
NC_000012.10:g.15022314T>A NCBI36
NG_016859.1:g.10092T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.101T>A MANE Select ENSP00000266395.2:p.Phe34Tyr
ENST00000266395.2:c.101T>A ENSP00000266395.2:p.Phe34Tyr
NM_006205.2:c.101T>A NP_006196.1:p.Phe34Tyr
XR_931376.1:n.175+11374A>T
XM_017019431.2:c.101T>A XP_016874920.1:p.Phe34Tyr
XR_931376.2:n.389+11374A>T
NM_006205.3:c.101T>A MANE Select NP_006196.1:p.Phe34Tyr
Search 100 bp 5'
Search 100 bp 3'