Canonical Allele Identifier: CA10436832

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68073205C>T , CM000685.2:g.68073205C>T	GRCh38
NC_000023.10:g.67293047C>T , CM000685.1:g.67293047C>T	GRCh37
NC_000023.9:g.67209772C>T	NCBI36
NG_008960.1:g.365253G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.1781G>A MANE Select	NP_002538.1:p.Arg594His
ENST00000355520.6:c.1781G>A MANE Select	ENSP00000347710.5:p.Arg594His
NM_002547.2:c.1781G>A	NP_002538.1:p.Arg594His
ENST00000355520.5:c.1781G>A	ENSP00000347710.5:p.Arg594His
ENST00000484842.1:n.397G>A
ENST00000679748.1:c.1781G>A	ENSP00000505800.1:p.Arg594His
ENST00000679822.1:c.1781G>A	ENSP00000505810.1:p.Arg594His
ENST00000680592.1:n.1287G>A
ENST00000680612.1:c.1686+23665G>A	ENSP00000505365.1:n.1686+23665G>A
ENST00000681408.1:c.1676G>A	ENSP00000506619.1:p.Arg559His
XM_005262270.1:c.1781G>A	XP_005262327.1:p.Arg594His
XM_006724653.1:c.1781G>A	XP_006724716.1:p.Arg594His
XM_006724653.2:c.1781G>A	XP_006724716.1:p.Arg594His
XM_011530961.1:c.1781G>A	XP_011529263.1:p.Arg594His