Canonical Allele Identifier: CA6465824
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs370234224
ExAC: 12:15130930 G / A
gnomAD v2: 12-15130930-G-A
gnomAD v3: 12-14977996-G-A
gnomAD v4: 12-14977996-G-A
MyVariant Identifiers: chr12:g.15130930G>A (hg19) chr12:g.14977996G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977996G>A , CM000674.2:g.14977996G>A GRCh38
NC_000012.11:g.15130930G>A , CM000674.1:g.15130930G>A GRCh37
NC_000012.10:g.15022197G>A NCBI36
NG_016859.1:g.9975G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-17G>A MANE Select ENSP00000266395.2:n.-17G>A
ENST00000266395.2:c.-17G>A ENSP00000266395.2:n.-17G>A
NM_006205.2:c.-17G>A NP_006196.1:n.-17G>A
XR_931376.1:n.175+11491C>T
XM_017019431.2:c.-17G>A XP_016874920.1:n.-17G>A
XR_931376.2:n.389+11491C>T
NM_006205.3:c.-17G>A MANE Select NP_006196.1:n.-17G>A
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