Canonical Allele Identifier: CA16621469
Gene: OPHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421280
ClinVar RCV Id: RCV000481229 RCV001788233
dbSNP Id: rs1064795031
gnomAD v4: X-68192970-G-A
MyVariant Identifiers: chrX:g.67412812G>A (hg19) chrX:g.68192970G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68192970G>A , CM000685.2:g.68192970G>A GRCh38
NC_000023.10:g.67412812G>A , CM000685.1:g.67412812G>A GRCh37
NC_000023.9:g.67329537G>A NCBI36
NG_008960.1:g.245488C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355520.6:c.1225C>T MANE Select ENSP00000347710.5:p.Arg409Cys
ENST00000679748.1:c.1225C>T ENSP00000505800.1:p.Arg409Cys
ENST00000679822.1:c.1225C>T ENSP00000505810.1:p.Arg409Cys
ENST00000680592.1:n.731C>T
ENST00000680612.1:c.1225C>T ENSP00000505365.1:p.Arg409Cys
ENST00000681408.1:c.1120C>T ENSP00000506619.1:p.Arg374Cys
ENST00000355520.5:c.1225C>T ENSP00000347710.5:p.Arg409Cys
ENST00000467444.1:n.509C>T
NM_002547.2:c.1225C>T NP_002538.1:p.Arg409Cys
XM_005262270.1:c.1225C>T XP_005262327.1:p.Arg409Cys
XM_006724653.1:c.1225C>T XP_006724716.1:p.Arg409Cys
XM_011530961.1:c.1225C>T XP_011529263.1:p.Arg409Cys
XM_006724653.2:c.1225C>T XP_006724716.1:p.Arg409Cys
XM_017029555.1:c.1225C>T XP_016885044.1:p.Arg409Cys
NM_002547.3:c.1225C>T MANE Select NP_002538.1:p.Arg409Cys
Search 100 bp 5'
Search 100 bp 3'