Canonical Allele Identifier: CA2617795898
Gene: PDE6H HGNC NCBI

Linked Data

gnomAD v4: 12-14977922-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977922G>C , CM000674.2:g.14977922G>C GRCh38
NC_000012.11:g.15130856G>C , CM000674.1:g.15130856G>C GRCh37
NC_000012.10:g.15022123G>C NCBI36
NG_016859.1:g.9901G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-41-50G>C MANE Select ENSP00000266395.2:n.-41-50G>C
ENST00000266395.2:c.-41-50G>C ENSP00000266395.2:n.-41-50G>C
NM_006205.2:c.-41-50G>C NP_006196.1:n.-41-50G>C
XR_931376.1:n.175+11565C>G
XM_017019431.2:c.-91G>C XP_016874920.1:n.-91G>C
XR_931376.2:n.389+11565C>G
NM_006205.3:c.-41-50G>C MANE Select NP_006196.1:n.-41-50G>C
Search 100 bp 5'
Search 100 bp 3'