Canonical Allele Identifier: CA2617795972
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs200829414
gnomAD v4: 12-14978002-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978002G>A , CM000674.2:g.14978002G>A GRCh38
NC_000012.11:g.15130936G>A , CM000674.1:g.15130936G>A GRCh37
NC_000012.10:g.15022203G>A NCBI36
NG_016859.1:g.9981G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-11G>A MANE Select ENSP00000266395.2:n.-11G>A
ENST00000266395.2:c.-11G>A ENSP00000266395.2:n.-11G>A
NM_006205.2:c.-11G>A NP_006196.1:n.-11G>A
XR_931376.1:n.175+11485C>T
XM_017019431.2:c.-11G>A XP_016874920.1:n.-11G>A
XR_931376.2:n.389+11485C>T
NM_006205.3:c.-11G>A MANE Select NP_006196.1:n.-11G>A
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