Canonical Allele Identifier: CA233311863
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs986355218
gnomAD v3: 12-14977954-T-A
gnomAD v4: 12-14977954-T-A
MyVariant Identifiers: chr12:g.15130888T>A (hg19) chr12:g.14977954T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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