Canonical Allele Identifier: CA384023794
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15130978C>A (hg19) chr12:g.14978044C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978044C>A , CM000674.2:g.14978044C>A GRCh38
NC_000012.11:g.15130978C>A , CM000674.1:g.15130978C>A GRCh37
NC_000012.10:g.15022245C>A NCBI36
NG_016859.1:g.10023C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.32C>A MANE Select ENSP00000266395.2:p.Ala11Asp
ENST00000266395.2:c.32C>A ENSP00000266395.2:p.Ala11Asp
NM_006205.2:c.32C>A NP_006196.1:p.Ala11Asp
XR_931376.1:n.175+11443G>T
XM_017019431.2:c.32C>A XP_016874920.1:p.Ala11Asp
XR_931376.2:n.389+11443G>T
NM_006205.3:c.32C>A MANE Select NP_006196.1:p.Ala11Asp
Search 100 bp 5'
Search 100 bp 3'