Canonical Allele Identifier: CA6465862
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs202208920
ExAC: 12:15131105 C / T
gnomAD v2: 12-15131105-C-T
gnomAD v3: 12-14978171-C-T
gnomAD v4: 12-14978171-C-T
MyVariant Identifiers: chr12:g.15131105C>T (hg19) chr12:g.14978171C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978171C>T , CM000674.2:g.14978171C>T GRCh38
NC_000012.11:g.15131105C>T , CM000674.1:g.15131105C>T GRCh37
NC_000012.10:g.15022372C>T NCBI36
NG_016859.1:g.10150C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.134+25C>T MANE Select ENSP00000266395.2:n.134+25C>T
ENST00000266395.2:c.134+25C>T ENSP00000266395.2:n.134+25C>T
NM_006205.2:c.134+25C>T NP_006196.1:n.134+25C>T
XR_931376.1:n.175+11316G>A
XM_017019431.2:c.134+25C>T XP_016874920.1:n.134+25C>T
XR_931376.2:n.389+11316G>A
NM_006205.3:c.134+25C>T MANE Select NP_006196.1:n.134+25C>T
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