Canonical Allele Identifier: CA233312046
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs112356824
gnomAD v4: 12-14978005-G-T
MyVariant Identifiers: chr12:g.15130939G>T (hg19) chr12:g.14978005G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978005G>T , CM000674.2:g.14978005G>T GRCh38
NC_000012.11:g.15130939G>T , CM000674.1:g.15130939G>T GRCh37
NC_000012.10:g.15022206G>T NCBI36
NG_016859.1:g.9984G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-8G>T MANE Select ENSP00000266395.2:n.-8G>T
ENST00000266395.2:c.-8G>T ENSP00000266395.2:n.-8G>T
NM_006205.2:c.-8G>T NP_006196.1:n.-8G>T
XR_931376.1:n.175+11482C>A
XM_017019431.2:c.-8G>T XP_016874920.1:n.-8G>T
XR_931376.2:n.389+11482C>A
NM_006205.3:c.-8G>T MANE Select NP_006196.1:n.-8G>T
Search 100 bp 5'
Search 100 bp 3'