Canonical Allele Identifier: CA2617795969

Gene: PDE6H

Linked Data

• gnomAD v4: 12-14977997-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14977997C>T , CM000674.2:g.14977997C>T	GRCh38
NC_000012.11:g.15130931C>T , CM000674.1:g.15130931C>T	GRCh37
NC_000012.10:g.15022198C>T	NCBI36
NG_016859.1:g.9976C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266395.3:c.-16C>T MANE Select	ENSP00000266395.2:n.-16C>T
ENST00000266395.2:c.-16C>T	ENSP00000266395.2:n.-16C>T
NM_006205.2:c.-16C>T	NP_006196.1:n.-16C>T
XR_931376.1:n.175+11490G>A
XM_017019431.2:c.-16C>T	XP_016874920.1:n.-16C>T
XR_931376.2:n.389+11490G>A
NM_006205.3:c.-16C>T MANE Select	NP_006196.1:n.-16C>T