Canonical Allele Identifier: CA384023694
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15130957A>C (hg19) chr12:g.14978023A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978023A>C , CM000674.2:g.14978023A>C GRCh38
NC_000012.11:g.15130957A>C , CM000674.1:g.15130957A>C GRCh37
NC_000012.10:g.15022224A>C NCBI36
NG_016859.1:g.10002A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.11A>C MANE Select ENSP00000266395.2:p.Asn4Thr
ENST00000266395.2:c.11A>C ENSP00000266395.2:p.Asn4Thr
NM_006205.2:c.11A>C NP_006196.1:p.Asn4Thr
XR_931376.1:n.175+11464T>G
XM_017019431.2:c.11A>C XP_016874920.1:p.Asn4Thr
XR_931376.2:n.389+11464T>G
NM_006205.3:c.11A>C MANE Select NP_006196.1:p.Asn4Thr
Search 100 bp 5'
Search 100 bp 3'