Canonical Allele Identifier: CA2617795856
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1864619276
gnomAD v4: 12-14977882-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977882C>A , CM000674.2:g.14977882C>A GRCh38
NC_000012.11:g.15130816C>A , CM000674.1:g.15130816C>A GRCh37
NC_000012.10:g.15022083C>A NCBI36
NG_016859.1:g.9861C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-90C>A MANE Select ENSP00000266395.2:n.-41-90C>A
ENST00000266395.2:c.-41-90C>A ENSP00000266395.2:n.-41-90C>A
NM_006205.2:c.-41-90C>A NP_006196.1:n.-41-90C>A
XR_931376.1:n.175+11605G>T
XM_017019431.2:c.-131C>A XP_016874920.1:n.-131C>A
XR_931376.2:n.389+11605G>T
NM_006205.3:c.-41-90C>A MANE Select NP_006196.1:n.-41-90C>A
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