Canonical Allele Identifier: CA642397310

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68193887T>C , CM000685.2:g.68193887T>C	GRCh38
NC_000023.10:g.67413729T>C , CM000685.1:g.67413729T>C	GRCh37
NC_000023.9:g.67330454T>C	NCBI36
NG_008960.1:g.244571A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.1201+3A>G MANE Select	NP_002538.1:n.1201+3A>G
ENST00000355520.6:c.1201+3A>G MANE Select	ENSP00000347710.5:n.1201+3A>G
NM_002547.2:c.1201+3A>G	NP_002538.1:n.1201+3A>G
ENST00000355520.5:c.1201+3A>G	ENSP00000347710.5:n.1201+3A>G
ENST00000467444.1:n.485+3A>G
ENST00000679748.1:c.1201+3A>G	ENSP00000505800.1:n.1201+3A>G
ENST00000679822.1:c.1201+3A>G	ENSP00000505810.1:n.1201+3A>G
ENST00000680592.1:n.707+3A>G
ENST00000680612.1:c.1201+3A>G	ENSP00000505365.1:n.1201+3A>G
ENST00000681408.1:c.1096+3A>G	ENSP00000506619.1:n.1096+3A>G
XM_005262270.1:c.1201+3A>G	XP_005262327.1:n.1201+3A>G
XM_006724653.1:c.1201+3A>G	XP_006724716.1:n.1201+3A>G
XM_006724653.2:c.1201+3A>G	XP_006724716.1:n.1201+3A>G
XM_011530961.1:c.1201+3A>G	XP_011529263.1:n.1201+3A>G
XM_017029555.1:c.1201+3A>G	XP_016885044.1:n.1201+3A>G