Canonical Allele Identifier: CA413432436

Gene: OPHN1

Linked Data

• gnomAD v4: X-68299013-C-A
• MyVariant Identifiers: chrX:g.67518855C>A (hg19) ; chrX:g.68299013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68299013C>A , CM000685.2:g.68299013C>A	GRCh38
NC_000023.10:g.67518855C>A , CM000685.1:g.67518855C>A	GRCh37
NC_000023.9:g.67435580C>A	NCBI36
NG_008960.1:g.139445G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.238G>T MANE Select	ENSP00000347710.5:p.Glu80Ter
ENST00000679748.1:c.238G>T	ENSP00000505800.1:p.Glu80Ter
ENST00000679822.1:c.238G>T	ENSP00000505810.1:p.Glu80Ter
ENST00000679914.1:n.597G>T
ENST00000680417.1:n.59G>T
ENST00000680503.1:n.915G>T
ENST00000680612.1:c.238G>T	ENSP00000505365.1:p.Glu80Ter
ENST00000681408.1:c.238G>T	ENSP00000506619.1:p.Glu80Ter
ENST00000355520.5:c.238G>T	ENSP00000347710.5:p.Glu80Ter
ENST00000486068.1:n.108G>T
NM_002547.2:c.238G>T	NP_002538.1:p.Glu80Ter
XM_005262270.1:c.238G>T	XP_005262327.1:p.Glu80Ter
XM_006724653.1:c.238G>T	XP_006724716.1:p.Glu80Ter
XM_011530961.1:c.238G>T	XP_011529263.1:p.Glu80Ter
XM_006724653.2:c.238G>T	XP_006724716.1:p.Glu80Ter
XM_017029555.1:c.238G>T	XP_016885044.1:p.Glu80Ter
NM_002547.3:c.238G>T MANE Select	NP_002538.1:p.Glu80Ter