Canonical Allele Identifier: CA2435369214

Gene: OPHN1

Linked Data

• dbSNP Id: rs2078108585
• gnomAD v4: X-68299099-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68299099G>A , CM000685.2:g.68299099G>A	GRCh38
NC_000023.10:g.67518941G>A , CM000685.1:g.67518941G>A	GRCh37
NC_000023.9:g.67435666G>A	NCBI36
NG_008960.1:g.139359C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.155-3C>T MANE Select	ENSP00000347710.5:n.155-3C>T
ENST00000679748.1:c.155-3C>T	ENSP00000505800.1:n.155-3C>T
ENST00000679822.1:c.155-3C>T	ENSP00000505810.1:n.155-3C>T
ENST00000679914.1:n.514-3C>T
ENST00000680503.1:n.832-3C>T
ENST00000680612.1:c.155-3C>T	ENSP00000505365.1:n.155-3C>T
ENST00000681408.1:c.155-3C>T	ENSP00000506619.1:n.155-3C>T
ENST00000355520.5:c.155-3C>T	ENSP00000347710.5:n.155-3C>T
ENST00000486068.1:n.25-3C>T
NM_002547.2:c.155-3C>T	NP_002538.1:n.155-3C>T
XM_005262270.1:c.155-3C>T	XP_005262327.1:n.155-3C>T
XM_006724653.1:c.155-3C>T	XP_006724716.1:n.155-3C>T
XM_011530961.1:c.155-3C>T	XP_011529263.1:n.155-3C>T
XM_006724653.2:c.155-3C>T	XP_006724716.1:n.155-3C>T
XM_017029555.1:c.155-3C>T	XP_016885044.1:n.155-3C>T
NM_002547.3:c.155-3C>T MANE Select	NP_002538.1:n.155-3C>T