Canonical Allele Identifier: CA2435369193

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68299002G= , CM000685.2:g.68299002G=	GRCh38
NC_000023.10:g.67518844G= , CM000685.1:g.67518844G=	GRCh37
NC_000023.9:g.67435569G=	NCBI36
NG_008960.1:g.139456C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.249C= MANE Select	ENSP00000347710.5:p.Ile83=
ENST00000679748.1:c.249C=	ENSP00000505800.1:p.Ile83=
ENST00000679822.1:c.249C=	ENSP00000505810.1:p.Ile83=
ENST00000679914.1:n.608C=
ENST00000680417.1:n.70C=
ENST00000680503.1:n.926C=
ENST00000680612.1:c.249C=	ENSP00000505365.1:p.Ile83=
ENST00000681408.1:c.249C=	ENSP00000506619.1:p.Ile83=
ENST00000355520.5:c.249C=	ENSP00000347710.5:p.Ile83=
ENST00000486068.1:n.119C=
NM_002547.2:c.249C=	NP_002538.1:p.Ile83=
XM_005262270.1:c.249C=	XP_005262327.1:p.Ile83=
XM_006724653.1:c.249C=	XP_006724716.1:p.Ile83=
XM_011530961.1:c.249C=	XP_011529263.1:p.Ile83=
XM_006724653.2:c.249C=	XP_006724716.1:p.Ile83=
XM_017029555.1:c.249C=	XP_016885044.1:p.Ile83=
NM_002547.3:c.249C= MANE Select	NP_002538.1:p.Ile83=