Canonical Allele Identifier: CA6465860
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs749354961
ExAC: 12:15131093 T / C
gnomAD v2: 12-15131093-T-C
gnomAD v4: 12-14978159-T-C
MyVariant Identifiers: chr12:g.15131093T>C (hg19) chr12:g.14978159T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978159T>C , CM000674.2:g.14978159T>C GRCh38
NC_000012.11:g.15131093T>C , CM000674.1:g.15131093T>C GRCh37
NC_000012.10:g.15022360T>C NCBI36
NG_016859.1:g.10138T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.134+13T>C MANE Select ENSP00000266395.2:n.134+13T>C
ENST00000266395.2:c.134+13T>C ENSP00000266395.2:n.134+13T>C
NM_006205.2:c.134+13T>C NP_006196.1:n.134+13T>C
XR_931376.1:n.175+11328A>G
XM_017019431.2:c.134+13T>C XP_016874920.1:n.134+13T>C
XR_931376.2:n.389+11328A>G
NM_006205.3:c.134+13T>C MANE Select NP_006196.1:n.134+13T>C
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