Canonical Allele Identifier: CA2617795941
Gene: PDE6H HGNC NCBI

Linked Data

gnomAD v4: 12-14977954-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977954T>G , CM000674.2:g.14977954T>G GRCh38
NC_000012.11:g.15130888T>G , CM000674.1:g.15130888T>G GRCh37
NC_000012.10:g.15022155T>G NCBI36
NG_016859.1:g.9933T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-18T>G MANE Select ENSP00000266395.2:n.-41-18T>G
ENST00000266395.2:c.-41-18T>G ENSP00000266395.2:n.-41-18T>G
NM_006205.2:c.-41-18T>G NP_006196.1:n.-41-18T>G
XR_931376.1:n.175+11533A>C
XM_017019431.2:c.-59T>G XP_016874920.1:n.-59T>G
XR_931376.2:n.389+11533A>C
NM_006205.3:c.-41-18T>G MANE Select NP_006196.1:n.-41-18T>G
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