Canonical Allele Identifier: CA2617795868

Gene: PDE6H

Linked Data

• gnomAD v4: 12-14977897-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14977897C>T , CM000674.2:g.14977897C>T	GRCh38
NC_000012.11:g.15130831C>T , CM000674.1:g.15130831C>T	GRCh37
NC_000012.10:g.15022098C>T	NCBI36
NG_016859.1:g.9876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.-41-75C>T MANE Select	ENSP00000266395.2:n.-41-75C>T
ENST00000266395.2:c.-41-75C>T	ENSP00000266395.2:n.-41-75C>T
NM_006205.2:c.-41-75C>T	NP_006196.1:n.-41-75C>T
XR_931376.1:n.175+11590G>A
XM_017019431.2:c.-116C>T	XP_016874920.1:n.-116C>T
XR_931376.2:n.389+11590G>A
NM_006205.3:c.-41-75C>T MANE Select	NP_006196.1:n.-41-75C>T