Canonical Allele Identifier: CA384023809

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15130981C>T (hg19) ; chr12:g.14978047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978047C>T , CM000674.2:g.14978047C>T	GRCh38
NC_000012.11:g.15130981C>T , CM000674.1:g.15130981C>T	GRCh37
NC_000012.10:g.15022248C>T	NCBI36
NG_016859.1:g.10026C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.35C>T MANE Select	ENSP00000266395.2:p.Ser12Leu
ENST00000266395.2:c.35C>T	ENSP00000266395.2:p.Ser12Leu
NM_006205.2:c.35C>T	NP_006196.1:p.Ser12Leu
XR_931376.1:n.175+11440G>A
XM_017019431.2:c.35C>T	XP_016874920.1:p.Ser12Leu
XR_931376.2:n.389+11440G>A
NM_006205.3:c.35C>T MANE Select	NP_006196.1:p.Ser12Leu