Canonical Allele Identifier: CA384024023
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15131046T>C (hg19) chr12:g.14978112T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978112T>C , CM000674.2:g.14978112T>C GRCh38
NC_000012.11:g.15131046T>C , CM000674.1:g.15131046T>C GRCh37
NC_000012.10:g.15022313T>C NCBI36
NG_016859.1:g.10091T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.100T>C MANE Select ENSP00000266395.2:p.Phe34Leu
ENST00000266395.2:c.100T>C ENSP00000266395.2:p.Phe34Leu
NM_006205.2:c.100T>C NP_006196.1:p.Phe34Leu
XR_931376.1:n.175+11375A>G
XM_017019431.2:c.100T>C XP_016874920.1:p.Phe34Leu
XR_931376.2:n.389+11375A>G
NM_006205.3:c.100T>C MANE Select NP_006196.1:p.Phe34Leu
Search 100 bp 5'
Search 100 bp 3'