Canonical Allele Identifier: CA2617795929
Gene: PDE6H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977947T>A , CM000674.2:g.14977947T>A GRCh38
NC_000012.11:g.15130881T>A , CM000674.1:g.15130881T>A GRCh37
NC_000012.10:g.15022148T>A NCBI36
NG_016859.1:g.9926T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-25T>A MANE Select ENSP00000266395.2:n.-41-25T>A
ENST00000266395.2:c.-41-25T>A ENSP00000266395.2:n.-41-25T>A
NM_006205.2:c.-41-25T>A NP_006196.1:n.-41-25T>A
XR_931376.1:n.175+11540A>T
XM_017019431.2:c.-66T>A XP_016874920.1:n.-66T>A
XR_931376.2:n.389+11540A>T
NM_006205.3:c.-41-25T>A MANE Select NP_006196.1:n.-41-25T>A