Canonical Allele Identifier: CA478714783
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15131039T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978105T>G , CM000674.2:g.14978105T>G GRCh38
NC_000012.11:g.15131039T>G , CM000674.1:g.15131039T>G GRCh37
NC_000012.10:g.15022306T>G NCBI36
NG_016859.1:g.10084T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.93T>G MANE Select ENSP00000266395.2:p.Thr31=
ENST00000266395.2:c.93T>G ENSP00000266395.2:p.Thr31=
NM_006205.2:c.93T>G NP_006196.1:p.Thr31=
XR_931376.1:n.175+11382A>C
XM_017019431.2:c.93T>G XP_016874920.1:p.Thr31=
XR_931376.2:n.389+11382A>C
NM_006205.3:c.93T>G MANE Select NP_006196.1:p.Thr31=