Canonical Allele Identifier: CA384023790
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15130977G>C (hg19) chr12:g.14978043G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978043G>C , CM000674.2:g.14978043G>C GRCh38
NC_000012.11:g.15130977G>C , CM000674.1:g.15130977G>C GRCh37
NC_000012.10:g.15022244G>C NCBI36
NG_016859.1:g.10022G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.31G>C MANE Select ENSP00000266395.2:p.Ala11Pro
ENST00000266395.2:c.31G>C ENSP00000266395.2:p.Ala11Pro
NM_006205.2:c.31G>C NP_006196.1:p.Ala11Pro
XR_931376.1:n.175+11444C>G
XM_017019431.2:c.31G>C XP_016874920.1:p.Ala11Pro
XR_931376.2:n.389+11444C>G
NM_006205.3:c.31G>C MANE Select NP_006196.1:p.Ala11Pro
Search 100 bp 5'
Search 100 bp 3'