Canonical Allele Identifier: CA172913

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68053814G>A , CM000685.2:g.68053814G>A	GRCh38
NC_000023.10:g.67273656G>A , CM000685.1:g.67273656G>A	GRCh37
NC_000023.9:g.67190381G>A	NCBI36
NG_008960.1:g.384644C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.2159-4C>T MANE Select	NP_002538.1:n.2159-4C>T
ENST00000355520.6:c.2159-4C>T MANE Select	ENSP00000347710.5:n.2159-4C>T
NM_002547.2:c.2159-4C>T	NP_002538.1:n.2159-4C>T
ENST00000355520.5:c.2159-4C>T	ENSP00000347710.5:n.2159-4C>T
ENST00000679748.1:c.1835-4C>T	ENSP00000505800.1:n.1835-4C>T
ENST00000679822.1:c.1835-6651C>T	ENSP00000505810.1:n.1835-6651C>T
ENST00000680592.1:n.1665-4C>T
ENST00000680612.1:c.1686+43056C>T	ENSP00000505365.1:n.1686+43056C>T
ENST00000681408.1:c.2054-4C>T	ENSP00000506619.1:n.2054-4C>T
XM_005262270.1:c.1835-4C>T	XP_005262327.1:n.1835-4C>T
XM_006724653.1:c.2159-4C>T	XP_006724716.1:n.2159-4C>T
XM_006724653.2:c.2159-4C>T	XP_006724716.1:n.2159-4C>T
XM_011530961.1:c.2159-4C>T	XP_011529263.1:n.2159-4C>T