Canonical Allele Identifier: CA2617795976
Gene: PDE6H HGNC NCBI

Linked Data

gnomAD v4: 12-14978005-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978005G>A , CM000674.2:g.14978005G>A GRCh38
NC_000012.11:g.15130939G>A , CM000674.1:g.15130939G>A GRCh37
NC_000012.10:g.15022206G>A NCBI36
NG_016859.1:g.9984G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-8G>A MANE Select ENSP00000266395.2:n.-8G>A
ENST00000266395.2:c.-8G>A ENSP00000266395.2:n.-8G>A
NM_006205.2:c.-8G>A NP_006196.1:n.-8G>A
XR_931376.1:n.175+11482C>T
XM_017019431.2:c.-8G>A XP_016874920.1:n.-8G>A
XR_931376.2:n.389+11482C>T
NM_006205.3:c.-8G>A MANE Select NP_006196.1:n.-8G>A
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