Canonical Allele Identifier: CA642399943

Gene: OPHN1

Linked Data

• dbSNP Id: rs776513378
• gnomAD v2: X-67518826-T-C
• gnomAD v4: X-68298984-T-C
• MyVariant Identifiers: chrX:g.67518826T>C (hg19) ; chrX:g.68298984T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68298984T>C , CM000685.2:g.68298984T>C	GRCh38
NC_000023.10:g.67518826T>C , CM000685.1:g.67518826T>C	GRCh37
NC_000023.9:g.67435551T>C	NCBI36
NG_008960.1:g.139474A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.250+17A>G MANE Select	ENSP00000347710.5:n.250+17A>G
ENST00000679748.1:c.250+17A>G	ENSP00000505800.1:n.250+17A>G
ENST00000679822.1:c.250+17A>G	ENSP00000505810.1:n.250+17A>G
ENST00000679914.1:n.609+17A>G
ENST00000680417.1:n.71+17A>G
ENST00000680503.1:n.927+17A>G
ENST00000680612.1:c.250+17A>G	ENSP00000505365.1:n.250+17A>G
ENST00000681408.1:c.250+17A>G	ENSP00000506619.1:n.250+17A>G
ENST00000355520.5:c.250+17A>G	ENSP00000347710.5:n.250+17A>G
NM_002547.2:c.250+17A>G	NP_002538.1:n.250+17A>G
XM_005262270.1:c.250+17A>G	XP_005262327.1:n.250+17A>G
XM_006724653.1:c.250+17A>G	XP_006724716.1:n.250+17A>G
XM_011530961.1:c.250+17A>G	XP_011529263.1:n.250+17A>G
XM_006724653.2:c.250+17A>G	XP_006724716.1:n.250+17A>G
XM_017029555.1:c.250+17A>G	XP_016885044.1:n.250+17A>G
NM_002547.3:c.250+17A>G MANE Select	NP_002538.1:n.250+17A>G