Canonical Allele Identifier: CA413430434

Gene: OPHN1

Linked Data

• gnomAD v4: X-68064006-T-A
• MyVariant Identifiers: chrX:g.67283848T>A (hg19) ; chrX:g.68064006T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68064006T>A , CM000685.2:g.68064006T>A	GRCh38
NC_000023.10:g.67283848T>A , CM000685.1:g.67283848T>A	GRCh37
NC_000023.9:g.67200573T>A	NCBI36
NG_008960.1:g.374452A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2006A>T MANE Select	ENSP00000347710.5:p.Asp669Val
ENST00000679748.1:c.1834+9146A>T	ENSP00000505800.1:n.1834+9146A>T
ENST00000679822.1:c.1834+9146A>T	ENSP00000505810.1:n.1834+9146A>T
ENST00000680592.1:n.1512A>T
ENST00000680612.1:c.1686+32864A>T	ENSP00000505365.1:n.1686+32864A>T
ENST00000681408.1:c.1901A>T	ENSP00000506619.1:p.Asp634Val
ENST00000355520.5:c.2006A>T	ENSP00000347710.5:p.Asp669Val
ENST00000484842.1:n.622A>T
NM_002547.2:c.2006A>T	NP_002538.1:p.Asp669Val
XM_005262270.1:c.1834+9146A>T	XP_005262327.1:n.1834+9146A>T
XM_006724653.1:c.2006A>T	XP_006724716.1:p.Asp669Val
XM_011530961.1:c.2006A>T	XP_011529263.1:p.Asp669Val
XM_006724653.2:c.2006A>T	XP_006724716.1:p.Asp669Val
NM_002547.3:c.2006A>T MANE Select	NP_002538.1:p.Asp669Val