Canonical Allele Identifier: CA384023899
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15130999C>G (hg19) chr12:g.14978065C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978065C>G , CM000674.2:g.14978065C>G GRCh38
NC_000012.11:g.15130999C>G , CM000674.1:g.15130999C>G GRCh37
NC_000012.10:g.15022266C>G NCBI36
NG_016859.1:g.10044C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.53C>G MANE Select ENSP00000266395.2:p.Thr18Ser
ENST00000266395.2:c.53C>G ENSP00000266395.2:p.Thr18Ser
NM_006205.2:c.53C>G NP_006196.1:p.Thr18Ser
XR_931376.1:n.175+11422G>C
XM_017019431.2:c.53C>G XP_016874920.1:p.Thr18Ser
XR_931376.2:n.389+11422G>C
NM_006205.3:c.53C>G MANE Select NP_006196.1:p.Thr18Ser
Search 100 bp 5'
Search 100 bp 3'