Canonical Allele Identifier: CA16616638

Gene: OFD1

Linked Data

• ClinVar Variation Id: 404165
• ClinVar RCV Id: RCV000465580 ; RCV002279956 ; RCV003448310 ; RCV003448908
• dbSNP Id: rs1060500123
• gnomAD v4: X-13767252-C-T
• MyVariant Identifiers: chrX:g.13785371C>T (hg19) ; chrX:g.13767252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13767252C>T , CM000685.2:g.13767252C>T	GRCh38
NC_000023.10:g.13785371C>T , CM000685.1:g.13785371C>T	GRCh37
NC_000023.9:g.13695292C>T	NCBI36
NG_008872.1:g.37540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*2418C>T	ENSP00000369941.2:n.*2418C>T
ENST00000398395.8:c.*2186C>T	ENSP00000381432.5:n.*2186C>T
ENST00000464463.6:n.4554C>T
ENST00000490265.6:n.3254C>T
ENST00000682237.1:c.*2285C>T	ENSP00000507121.1:n.*2285C>T
ENST00000682562.1:c.*4016C>T	ENSP00000507874.1:n.*4016C>T
ENST00000682953.1:c.*3341C>T	ENSP00000507878.1:n.*3341C>T
ENST00000683055.1:c.*3595C>T	ENSP00000508191.1:n.*3595C>T
ENST00000683284.1:c.*2956C>T	ENSP00000507837.1:n.*2956C>T
ENST00000683427.1:c.*1382C>T	ENSP00000507290.1:n.*1382C>T
ENST00000683454.1:n.2739C>T
ENST00000683637.1:n.3834C>T
ENST00000683655.1:c.*2939C>T	ENSP00000506770.1:n.*2939C>T
ENST00000683713.1:c.*2956C>T	ENSP00000507797.1:n.*2956C>T
ENST00000684577.1:c.*2311C>T	ENSP00000507871.1:n.*2311C>T
ENST00000340096.11:c.2725C>T MANE Select	ENSP00000344314.6:p.Arg909Ter
ENST00000340096.10:c.2725C>T	ENSP00000344314.6:p.Arg909Ter
ENST00000380550.6:c.2605C>T	ENSP00000369923.3:p.Arg869Ter
ENST00000380567.5:c.2305C>T	ENSP00000369941.1:p.Arg769Ter
ENST00000398395.7:c.*1065C>T	ENSP00000381432.4:n.*1065C>T
ENST00000464463.5:n.435C>T
ENST00000490265.5:n.3700C>T
NM_003611.2:c.2725C>T	NP_003602.1:p.Arg909Ter
XM_005274599.2:c.2746C>T	XP_005274656.1:p.Arg916Ter
XM_005274602.2:c.2635C>T	XP_005274659.1:p.Arg879Ter
XM_005274603.2:c.2626C>T	XP_005274660.1:p.Arg876Ter
XM_005274604.2:c.2605C>T	XP_005274661.1:p.Arg869Ter
XM_005274606.2:c.2581C>T	XP_005274663.1:p.Arg861Ter
XM_005274607.3:c.2305C>T	XP_005274664.1:p.Arg769Ter
XM_011545591.1:c.2746C>T	XP_011543893.1:p.Arg916Ter
XM_011545592.1:c.2533C>T	XP_011543894.1:p.Arg845Ter
XM_011545593.1:c.2746C>T	XP_011543895.1:p.Arg916Ter
XM_011545594.1:c.2404C>T	XP_011543896.1:p.Arg802Ter
XM_011545595.1:c.2404C>T	XP_011543897.1:p.Arg802Ter
XM_011545596.1:c.2510-802C>T	XP_011543898.1:n.2510-802C>T
XM_011545597.1:c.2194C>T	XP_011543899.1:p.Arg732Ter
XM_011545598.1:c.1450C>T	XP_011543900.1:p.Arg484Ter
XR_247288.2:n.2960-802C>T
NM_001330209.1:c.2605C>T	NP_001317138.1:p.Arg869Ter
NM_001330210.1:c.2305C>T	NP_001317139.1:p.Arg769Ter
XM_005274606.4:c.2581C>T	XP_005274663.1:p.Arg861Ter
XM_011545592.3:c.2533C>T	XP_011543894.1:p.Arg845Ter
XM_011545594.3:c.2404C>T	XP_011543896.1:p.Arg802Ter
XM_011545597.2:c.2194C>T	XP_011543899.1:p.Arg732Ter
XM_017029909.1:c.2305C>T	XP_016885398.1:p.Arg769Ter
XM_017029911.1:c.1783C>T	XP_016885400.1:p.Arg595Ter
XM_024452468.1:c.1450C>T	XP_024308236.1:p.Arg484Ter
XM_024452469.1:c.1450C>T	XP_024308237.1:p.Arg484Ter
XM_024452470.1:c.1450C>T	XP_024308238.1:p.Arg484Ter
XM_024452471.1:c.1339C>T	XP_024308239.1:p.Arg447Ter
NM_003611.3:c.2725C>T MANE Select	NP_003602.1:p.Arg909Ter
NM_001330209.2:c.2605C>T	NP_001317138.1:p.Arg869Ter
NM_001330210.2:c.2305C>T	NP_001317139.1:p.Arg769Ter