Canonical Allele Identifier: CA478714500
Gene: PDE6H HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.15130964T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978030T>C , CM000674.2:g.14978030T>C GRCh38
NC_000012.11:g.15130964T>C , CM000674.1:g.15130964T>C GRCh37
NC_000012.10:g.15022231T>C NCBI36
NG_016859.1:g.10009T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.18T>C MANE Select ENSP00000266395.2:p.Thr6=
ENST00000266395.2:c.18T>C ENSP00000266395.2:p.Thr6=
NM_006205.2:c.18T>C NP_006196.1:p.Thr6=
XR_931376.1:n.175+11457A>G
XM_017019431.2:c.18T>C XP_016874920.1:p.Thr6=
XR_931376.2:n.389+11457A>G
NM_006205.3:c.18T>C MANE Select NP_006196.1:p.Thr6=