Canonical Allele Identifier: CA2575088699
Gene: PDE6H HGNC NCBI

Linked Data

gnomAD v4: 12-14978007-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978007G>A , CM000674.2:g.14978007G>A GRCh38
NC_000012.11:g.15130941G>A , CM000674.1:g.15130941G>A GRCh37
NC_000012.10:g.15022208G>A NCBI36
NG_016859.1:g.9986G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-6G>A MANE Select ENSP00000266395.2:n.-6G>A
ENST00000266395.2:c.-6G>A ENSP00000266395.2:n.-6G>A
NM_006205.2:c.-6G>A NP_006196.1:n.-6G>A
XR_931376.1:n.175+11480C>T
XM_017019431.2:c.-6G>A XP_016874920.1:n.-6G>A
XR_931376.2:n.389+11480C>T
NM_006205.3:c.-6G>A MANE Select NP_006196.1:n.-6G>A
Search 100 bp 5'
Search 100 bp 3'