Canonical Allele Identifier: CA384023819
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15130984A>C (hg19) chr12:g.14978050A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978050A>C , CM000674.2:g.14978050A>C GRCh38
NC_000012.11:g.15130984A>C , CM000674.1:g.15130984A>C GRCh37
NC_000012.10:g.15022251A>C NCBI36
NG_016859.1:g.10029A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.38A>C MANE Select ENSP00000266395.2:p.Asn13Thr
ENST00000266395.2:c.38A>C ENSP00000266395.2:p.Asn13Thr
NM_006205.2:c.38A>C NP_006196.1:p.Asn13Thr
XR_931376.1:n.175+11437T>G
XM_017019431.2:c.38A>C XP_016874920.1:p.Asn13Thr
XR_931376.2:n.389+11437T>G
NM_006205.3:c.38A>C MANE Select NP_006196.1:p.Asn13Thr
Search 100 bp 5'
Search 100 bp 3'