Canonical Allele Identifier: CA384023675
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1483026444

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978019G>A , CM000674.2:g.14978019G>A GRCh38
NC_000012.11:g.15130953G>A , CM000674.1:g.15130953G>A GRCh37
NC_000012.10:g.15022220G>A NCBI36
NG_016859.1:g.9998G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.7G>A MANE Select ENSP00000266395.2:p.Asp3Asn
ENST00000266395.2:c.7G>A ENSP00000266395.2:p.Asp3Asn
NM_006205.2:c.7G>A NP_006196.1:p.Asp3Asn
XR_931376.1:n.175+11468C>T
XM_017019431.2:c.7G>A XP_016874920.1:p.Asp3Asn
XR_931376.2:n.389+11468C>T
NM_006205.3:c.7G>A MANE Select NP_006196.1:p.Asp3Asn