Canonical Allele Identifier: CA413430191

Gene: OPHN1

Linked Data

• gnomAD v4: X-68063889-C-A
• MyVariant Identifiers: chrX:g.67283731C>A (hg19) ; chrX:g.68063889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063889C>A , CM000685.2:g.68063889C>A	GRCh38
NC_000023.10:g.67283731C>A , CM000685.1:g.67283731C>A	GRCh37
NC_000023.9:g.67200456C>A	NCBI36
NG_008960.1:g.374569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2123G>T MANE Select	ENSP00000347710.5:p.Arg708Ile
ENST00000679748.1:c.1834+9263G>T	ENSP00000505800.1:n.1834+9263G>T
ENST00000679822.1:c.1834+9263G>T	ENSP00000505810.1:n.1834+9263G>T
ENST00000680592.1:n.1629G>T
ENST00000680612.1:c.1686+32981G>T	ENSP00000505365.1:n.1686+32981G>T
ENST00000681408.1:c.2018G>T	ENSP00000506619.1:p.Arg673Ile
ENST00000355520.5:c.2123G>T	ENSP00000347710.5:p.Arg708Ile
ENST00000484842.1:n.739G>T
NM_002547.2:c.2123G>T	NP_002538.1:p.Arg708Ile
XM_005262270.1:c.1834+9263G>T	XP_005262327.1:n.1834+9263G>T
XM_006724653.1:c.2123G>T	XP_006724716.1:p.Arg708Ile
XM_011530961.1:c.2123G>T	XP_011529263.1:p.Arg708Ile
XM_006724653.2:c.2123G>T	XP_006724716.1:p.Arg708Ile
NM_002547.3:c.2123G>T MANE Select	NP_002538.1:p.Arg708Ile