Canonical Allele Identifier: CA2435369161

Gene: OPHN1

Linked Data

• dbSNP Id: rs1793844548
• gnomAD v4: X-68298887-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68298887A>G , CM000685.2:g.68298887A>G	GRCh38
NC_000023.10:g.67518729A>G , CM000685.1:g.67518729A>G	GRCh37
NC_000023.9:g.67435454A>G	NCBI36
NG_008960.1:g.139571T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.250+114T>C MANE Select	ENSP00000347710.5:n.250+114T>C
ENST00000679748.1:c.250+114T>C	ENSP00000505800.1:n.250+114T>C
ENST00000679822.1:c.250+114T>C	ENSP00000505810.1:n.250+114T>C
ENST00000679914.1:n.609+114T>C
ENST00000680417.1:n.71+114T>C
ENST00000680503.1:n.927+114T>C
ENST00000680612.1:c.250+114T>C	ENSP00000505365.1:n.250+114T>C
ENST00000681408.1:c.250+114T>C	ENSP00000506619.1:n.250+114T>C
ENST00000355520.5:c.250+114T>C	ENSP00000347710.5:n.250+114T>C
NM_002547.2:c.250+114T>C	NP_002538.1:n.250+114T>C
XM_005262270.1:c.250+114T>C	XP_005262327.1:n.250+114T>C
XM_006724653.1:c.250+114T>C	XP_006724716.1:n.250+114T>C
XM_011530961.1:c.250+114T>C	XP_011529263.1:n.250+114T>C
XM_006724653.2:c.250+114T>C	XP_006724716.1:n.250+114T>C
XM_017029555.1:c.250+114T>C	XP_016885044.1:n.250+114T>C
NM_002547.3:c.250+114T>C MANE Select	NP_002538.1:n.250+114T>C