Canonical Allele Identifier: CA207735

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68096943T>C , CM000685.2:g.68096943T>C	GRCh38
NC_000023.10:g.67316785T>C , CM000685.1:g.67316785T>C	GRCh37
NC_000023.9:g.67233510T>C	NCBI36
NG_008960.1:g.341515A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.1613A>G MANE Select	NP_002538.1:p.Asp538Gly
ENST00000355520.6:c.1613A>G MANE Select	ENSP00000347710.5:p.Asp538Gly
NM_002547.2:c.1613A>G	NP_002538.1:p.Asp538Gly
ENST00000355520.5:c.1613A>G	ENSP00000347710.5:p.Asp538Gly
ENST00000484842.1:n.229A>G
ENST00000679748.1:c.1613A>G	ENSP00000505800.1:p.Asp538Gly
ENST00000679822.1:c.1613A>G	ENSP00000505810.1:p.Asp538Gly
ENST00000680592.1:n.1119A>G
ENST00000680612.1:c.1613A>G	ENSP00000505365.1:p.Asp538Gly
ENST00000681408.1:c.1508A>G	ENSP00000506619.1:p.Asp503Gly
XM_005262270.1:c.1613A>G	XP_005262327.1:p.Asp538Gly
XM_006724653.1:c.1613A>G	XP_006724716.1:p.Asp538Gly
XM_006724653.2:c.1613A>G	XP_006724716.1:p.Asp538Gly
XM_011530961.1:c.1613A>G	XP_011529263.1:p.Asp538Gly
XM_017029555.1:c.1613A>G	XP_016885044.1:p.Asp538Gly