Canonical Allele Identifier: CA517048566

Gene: OPHN1

Linked Data

• gnomAD v4: X-68063915-G-A
• MyVariant Identifiers: chrX:g.67283757G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063915G>A , CM000685.2:g.68063915G>A	GRCh38
NC_000023.10:g.67283757G>A , CM000685.1:g.67283757G>A	GRCh37
NC_000023.9:g.67200482G>A	NCBI36
NG_008960.1:g.374543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2097C>T MANE Select	ENSP00000347710.5:p.Thr699=
ENST00000679748.1:c.1834+9237C>T	ENSP00000505800.1:n.1834+9237C>T
ENST00000679822.1:c.1834+9237C>T	ENSP00000505810.1:n.1834+9237C>T
ENST00000680592.1:n.1603C>T
ENST00000680612.1:c.1686+32955C>T	ENSP00000505365.1:n.1686+32955C>T
ENST00000681408.1:c.1992C>T	ENSP00000506619.1:p.Thr664=
ENST00000355520.5:c.2097C>T	ENSP00000347710.5:p.Thr699=
ENST00000484842.1:n.713C>T
NM_002547.2:c.2097C>T	NP_002538.1:p.Thr699=
XM_005262270.1:c.1834+9237C>T	XP_005262327.1:n.1834+9237C>T
XM_006724653.1:c.2097C>T	XP_006724716.1:p.Thr699=
XM_011530961.1:c.2097C>T	XP_011529263.1:p.Thr699=
XM_006724653.2:c.2097C>T	XP_006724716.1:p.Thr699=
NM_002547.3:c.2097C>T MANE Select	NP_002538.1:p.Thr699=