Canonical Allele Identifier: CA413430410

Gene: OPHN1

Linked Data

• gnomAD v4: X-68063995-A-C
• MyVariant Identifiers: chrX:g.67283837A>C (hg19) ; chrX:g.68063995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063995A>C , CM000685.2:g.68063995A>C	GRCh38
NC_000023.10:g.67283837A>C , CM000685.1:g.67283837A>C	GRCh37
NC_000023.9:g.67200562A>C	NCBI36
NG_008960.1:g.374463T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2017T>G MANE Select	ENSP00000347710.5:p.Leu673Val
ENST00000679748.1:c.1834+9157T>G	ENSP00000505800.1:n.1834+9157T>G
ENST00000679822.1:c.1834+9157T>G	ENSP00000505810.1:n.1834+9157T>G
ENST00000680592.1:n.1523T>G
ENST00000680612.1:c.1686+32875T>G	ENSP00000505365.1:n.1686+32875T>G
ENST00000681408.1:c.1912T>G	ENSP00000506619.1:p.Leu638Val
ENST00000355520.5:c.2017T>G	ENSP00000347710.5:p.Leu673Val
ENST00000484842.1:n.633T>G
NM_002547.2:c.2017T>G	NP_002538.1:p.Leu673Val
XM_005262270.1:c.1834+9157T>G	XP_005262327.1:n.1834+9157T>G
XM_006724653.1:c.2017T>G	XP_006724716.1:p.Leu673Val
XM_011530961.1:c.2017T>G	XP_011529263.1:p.Leu673Val
XM_006724653.2:c.2017T>G	XP_006724716.1:p.Leu673Val
NM_002547.3:c.2017T>G MANE Select	NP_002538.1:p.Leu673Val