Canonical Allele Identifier: CA172905

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68432888C>T , CM000685.2:g.68432888C>T	GRCh38
NC_000023.10:g.67652730C>T , CM000685.1:g.67652730C>T	GRCh37
NC_000023.9:g.67569455C>T	NCBI36
NG_008960.1:g.5570G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.133G>A MANE Select	NP_002538.1:p.Ala45Thr
ENST00000355520.6:c.133G>A MANE Select	ENSP00000347710.5:p.Ala45Thr
NM_002547.2:c.133G>A	NP_002538.1:p.Ala45Thr
ENST00000355520.5:c.133G>A	ENSP00000347710.5:p.Ala45Thr
ENST00000491714.2:c.133G>A	ENSP00000506478.1:p.Ala45Thr
ENST00000679748.1:c.133G>A	ENSP00000505800.1:p.Ala45Thr
ENST00000679822.1:c.133G>A	ENSP00000505810.1:p.Ala45Thr
ENST00000679914.1:n.492G>A
ENST00000680262.1:n.450G>A
ENST00000680503.1:n.810G>A
ENST00000680595.1:n.777G>A
ENST00000680612.1:c.133G>A	ENSP00000505365.1:p.Ala45Thr
ENST00000680804.1:c.133G>A	ENSP00000505428.1:p.Ala45Thr
ENST00000681349.1:n.265G>A
ENST00000681408.1:c.133G>A	ENSP00000506619.1:p.Ala45Thr
ENST00000681520.1:n.181G>A
XM_005262270.1:c.133G>A	XP_005262327.1:p.Ala45Thr
XM_006724653.1:c.133G>A	XP_006724716.1:p.Ala45Thr
XM_006724653.2:c.133G>A	XP_006724716.1:p.Ala45Thr
XM_011530961.1:c.133G>A	XP_011529263.1:p.Ala45Thr
XM_017029555.1:c.133G>A	XP_016885044.1:p.Ala45Thr