Canonical Allele Identifier: CA384023722
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1337755377
gnomAD v2: 12-15130963-C-A
gnomAD v4: 12-14978029-C-A
MyVariant Identifiers: chr12:g.15130963C>A (hg19) chr12:g.14978029C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978029C>A , CM000674.2:g.14978029C>A GRCh38
NC_000012.11:g.15130963C>A , CM000674.1:g.15130963C>A GRCh37
NC_000012.10:g.15022230C>A NCBI36
NG_016859.1:g.10008C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.17C>A MANE Select ENSP00000266395.2:p.Thr6Asn
ENST00000266395.2:c.17C>A ENSP00000266395.2:p.Thr6Asn
NM_006205.2:c.17C>A NP_006196.1:p.Thr6Asn
XR_931376.1:n.175+11458G>T
XM_017019431.2:c.17C>A XP_016874920.1:p.Thr6Asn
XR_931376.2:n.389+11458G>T
NM_006205.3:c.17C>A MANE Select NP_006196.1:p.Thr6Asn
Search 100 bp 5'
Search 100 bp 3'