Canonical Allele Identifier: CA384023974

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15131032G>T (hg19) ; chr12:g.14978098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978098G>T , CM000674.2:g.14978098G>T	GRCh38
NC_000012.11:g.15131032G>T , CM000674.1:g.15131032G>T	GRCh37
NC_000012.10:g.15022299G>T	NCBI36
NG_016859.1:g.10077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.86G>T MANE Select	ENSP00000266395.2:p.Arg29Met
ENST00000266395.2:c.86G>T	ENSP00000266395.2:p.Arg29Met
NM_006205.2:c.86G>T	NP_006196.1:p.Arg29Met
XR_931376.1:n.175+11389C>A
XM_017019431.2:c.86G>T	XP_016874920.1:p.Arg29Met
XR_931376.2:n.389+11389C>A
NM_006205.3:c.86G>T MANE Select	NP_006196.1:p.Arg29Met