Canonical Allele Identifier: CA2617795850
Gene: PDE6H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977876G>T , CM000674.2:g.14977876G>T GRCh38
NC_000012.11:g.15130810G>T , CM000674.1:g.15130810G>T GRCh37
NC_000012.10:g.15022077G>T NCBI36
NG_016859.1:g.9855G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-96G>T MANE Select ENSP00000266395.2:n.-41-96G>T
ENST00000266395.2:c.-41-96G>T ENSP00000266395.2:n.-41-96G>T
NM_006205.2:c.-41-96G>T NP_006196.1:n.-41-96G>T
XR_931376.1:n.175+11611C>A
XM_017019431.2:c.-137G>T XP_016874920.1:n.-137G>T
XR_931376.2:n.389+11611C>A
NM_006205.3:c.-41-96G>T MANE Select NP_006196.1:n.-41-96G>T