Canonical Allele Identifier: CA478714602

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15131000C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978066C>G , CM000674.2:g.14978066C>G	GRCh38
NC_000012.11:g.15131000C>G , CM000674.1:g.15131000C>G	GRCh37
NC_000012.10:g.15022267C>G	NCBI36
NG_016859.1:g.10045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.54C>G MANE Select	ENSP00000266395.2:p.Thr18=
ENST00000266395.2:c.54C>G	ENSP00000266395.2:p.Thr18=
NM_006205.2:c.54C>G	NP_006196.1:p.Thr18=
XR_931376.1:n.175+11421G>C
XM_017019431.2:c.54C>G	XP_016874920.1:p.Thr18=
XR_931376.2:n.389+11421G>C
NM_006205.3:c.54C>G MANE Select	NP_006196.1:p.Thr18=