Canonical Allele Identifier: CA642399924

Gene: OPHN1

Linked Data

• dbSNP Id: rs1450273114
• gnomAD v2: X-67518717-C-G
• gnomAD v3: X-68298875-C-G
• gnomAD v4: X-68298875-C-G
• MyVariant Identifiers: chrX:g.67518717C>G (hg19) ; chrX:g.68298875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68298875C>G , CM000685.2:g.68298875C>G	GRCh38
NC_000023.10:g.67518717C>G , CM000685.1:g.67518717C>G	GRCh37
NC_000023.9:g.67435442C>G	NCBI36
NG_008960.1:g.139583G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.250+126G>C MANE Select	ENSP00000347710.5:n.250+126G>C
ENST00000679748.1:c.250+126G>C	ENSP00000505800.1:n.250+126G>C
ENST00000679822.1:c.250+126G>C	ENSP00000505810.1:n.250+126G>C
ENST00000679914.1:n.609+126G>C
ENST00000680417.1:n.71+126G>C
ENST00000680503.1:n.927+126G>C
ENST00000680612.1:c.250+126G>C	ENSP00000505365.1:n.250+126G>C
ENST00000681408.1:c.250+126G>C	ENSP00000506619.1:n.250+126G>C
ENST00000355520.5:c.250+126G>C	ENSP00000347710.5:n.250+126G>C
NM_002547.2:c.250+126G>C	NP_002538.1:n.250+126G>C
XM_005262270.1:c.250+126G>C	XP_005262327.1:n.250+126G>C
XM_006724653.1:c.250+126G>C	XP_006724716.1:n.250+126G>C
XM_011530961.1:c.250+126G>C	XP_011529263.1:n.250+126G>C
XM_006724653.2:c.250+126G>C	XP_006724716.1:n.250+126G>C
XM_017029555.1:c.250+126G>C	XP_016885044.1:n.250+126G>C
NM_002547.3:c.250+126G>C MANE Select	NP_002538.1:n.250+126G>C