Canonical Allele Identifier: CA413432415

Gene: OPHN1

Linked Data

• gnomAD v4: X-68299004-T-G
• MyVariant Identifiers: chrX:g.67518846T>G (hg19) ; chrX:g.68299004T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68299004T>G , CM000685.2:g.68299004T>G	GRCh38
NC_000023.10:g.67518846T>G , CM000685.1:g.67518846T>G	GRCh37
NC_000023.9:g.67435571T>G	NCBI36
NG_008960.1:g.139454A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.247A>C MANE Select	ENSP00000347710.5:p.Ile83Leu
ENST00000679748.1:c.247A>C	ENSP00000505800.1:p.Ile83Leu
ENST00000679822.1:c.247A>C	ENSP00000505810.1:p.Ile83Leu
ENST00000679914.1:n.606A>C
ENST00000680417.1:n.68A>C
ENST00000680503.1:n.924A>C
ENST00000680612.1:c.247A>C	ENSP00000505365.1:p.Ile83Leu
ENST00000681408.1:c.247A>C	ENSP00000506619.1:p.Ile83Leu
ENST00000355520.5:c.247A>C	ENSP00000347710.5:p.Ile83Leu
ENST00000486068.1:n.117A>C
NM_002547.2:c.247A>C	NP_002538.1:p.Ile83Leu
XM_005262270.1:c.247A>C	XP_005262327.1:p.Ile83Leu
XM_006724653.1:c.247A>C	XP_006724716.1:p.Ile83Leu
XM_011530961.1:c.247A>C	XP_011529263.1:p.Ile83Leu
XM_006724653.2:c.247A>C	XP_006724716.1:p.Ile83Leu
XM_017029555.1:c.247A>C	XP_016885044.1:p.Ile83Leu
NM_002547.3:c.247A>C MANE Select	NP_002538.1:p.Ile83Leu