Canonical Allele Identifier: CA384023659

Gene: PDE6H

Linked Data

• MyVariant Identifiers: chr12:g.15130950A>T (hg19) ; chr12:g.14978016A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978016A>T , CM000674.2:g.14978016A>T	GRCh38
NC_000012.11:g.15130950A>T , CM000674.1:g.15130950A>T	GRCh37
NC_000012.10:g.15022217A>T	NCBI36
NG_016859.1:g.9995A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266395.3:c.4A>T MANE Select	ENSP00000266395.2:p.Ser2Cys
ENST00000266395.2:c.4A>T	ENSP00000266395.2:p.Ser2Cys
NM_006205.2:c.4A>T	NP_006196.1:p.Ser2Cys
XR_931376.1:n.175+11471T>A
XM_017019431.2:c.4A>T	XP_016874920.1:p.Ser2Cys
XR_931376.2:n.389+11471T>A
NM_006205.3:c.4A>T MANE Select	NP_006196.1:p.Ser2Cys