Canonical Allele Identifier: CA233311815
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs960650731
gnomAD v2: 12-15130840-A-T
gnomAD v3: 12-14977906-A-T
gnomAD v4: 12-14977906-A-T
MyVariant Identifiers: chr12:g.15130840A>T (hg19) chr12:g.14977906A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977906A>T , CM000674.2:g.14977906A>T GRCh38
NC_000012.11:g.15130840A>T , CM000674.1:g.15130840A>T GRCh37
NC_000012.10:g.15022107A>T NCBI36
NG_016859.1:g.9885A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-41-66A>T MANE Select ENSP00000266395.2:n.-41-66A>T
ENST00000266395.2:c.-41-66A>T ENSP00000266395.2:n.-41-66A>T
NM_006205.2:c.-41-66A>T NP_006196.1:n.-41-66A>T
XR_931376.1:n.175+11581T>A
XM_017019431.2:c.-107A>T XP_016874920.1:n.-107A>T
XR_931376.2:n.389+11581T>A
NM_006205.3:c.-41-66A>T MANE Select NP_006196.1:n.-41-66A>T
Search 100 bp 5'
Search 100 bp 3'