Canonical Allele Identifier: CA341099

Gene: OFD1

Linked Data

• ClinVar Variation Id: 11537
• ClinVar RCV Id: RCV000012293
• dbSNP Id: rs122460150
• MyVariant Identifiers: chrX:g.13774778A>C (hg19) ; chrX:g.13756659A>C (hg38)
• PubMed: PMID:11179005 ; PMID:20301367

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13756659A>C , CM000685.2:g.13756659A>C	GRCh38
NC_000023.10:g.13774778A>C , CM000685.1:g.13774778A>C	GRCh37
NC_000023.9:g.13684699A>C	NCBI36
NG_008872.1:g.26947A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*996A>C	ENSP00000369941.2:n.*996A>C
ENST00000398395.8:c.*876A>C	ENSP00000381432.5:n.*876A>C
ENST00000464463.6:n.1466A>C
ENST00000490265.6:n.1832A>C
ENST00000682237.1:c.*863A>C	ENSP00000507121.1:n.*863A>C
ENST00000682562.1:c.*2705A>C	ENSP00000507874.1:n.*2705A>C
ENST00000682953.1:c.*2030A>C	ENSP00000507878.1:n.*2030A>C
ENST00000683055.1:c.*72A>C	ENSP00000508191.1:n.*72A>C
ENST00000683284.1:c.*1534A>C	ENSP00000507837.1:n.*1534A>C
ENST00000683427.1:c.*72A>C	ENSP00000507290.1:n.*72A>C
ENST00000683454.1:n.1317A>C
ENST00000683637.1:n.2412A>C
ENST00000683655.1:c.*1517A>C	ENSP00000506770.1:n.*1517A>C
ENST00000683713.1:c.*1534A>C	ENSP00000507797.1:n.*1534A>C
ENST00000684577.1:c.*996A>C	ENSP00000507871.1:n.*996A>C
ENST00000340096.11:c.1303A>C MANE Select	ENSP00000344314.6:p.Ser435Arg
ENST00000340096.10:c.1303A>C	ENSP00000344314.6:p.Ser435Arg
ENST00000380550.6:c.1183A>C	ENSP00000369923.3:p.Ser395Arg
ENST00000380567.5:c.883A>C	ENSP00000369941.1:p.Ser295Arg
ENST00000398395.7:c.772A>C	ENSP00000381432.4:p.Ser258Arg
ENST00000490265.5:n.2278A>C
NM_003611.2:c.1303A>C	NP_003602.1:p.Ser435Arg
XM_005274599.2:c.1324A>C	XP_005274656.1:p.Ser442Arg
XM_005274602.2:c.1324A>C	XP_005274659.1:p.Ser442Arg
XM_005274603.2:c.1204A>C	XP_005274660.1:p.Ser402Arg
XM_005274604.2:c.1183A>C	XP_005274661.1:p.Ser395Arg
XM_005274606.2:c.1159A>C	XP_005274663.1:p.Ser387Arg
XM_005274607.3:c.883A>C	XP_005274664.1:p.Ser295Arg
XM_011545591.1:c.1324A>C	XP_011543893.1:p.Ser442Arg
XM_011545592.1:c.1111A>C	XP_011543894.1:p.Ser371Arg
XM_011545593.1:c.1324A>C	XP_011543895.1:p.Ser442Arg
XM_011545594.1:c.982A>C	XP_011543896.1:p.Ser328Arg
XM_011545595.1:c.982A>C	XP_011543897.1:p.Ser328Arg
XM_011545596.1:c.1324A>C	XP_011543898.1:p.Ser442Arg
XM_011545597.1:c.883A>C	XP_011543899.1:p.Ser295Arg
XM_011545598.1:c.28A>C	XP_011543900.1:p.Ser10Arg
XR_247288.2:n.1663A>C
NM_001330209.1:c.1183A>C	NP_001317138.1:p.Ser395Arg
NM_001330210.1:c.883A>C	NP_001317139.1:p.Ser295Arg
XM_005274606.4:c.1159A>C	XP_005274663.1:p.Ser387Arg
XM_011545592.3:c.1111A>C	XP_011543894.1:p.Ser371Arg
XM_011545594.3:c.982A>C	XP_011543896.1:p.Ser328Arg
XM_011545597.2:c.883A>C	XP_011543899.1:p.Ser295Arg
XM_017029909.1:c.883A>C	XP_016885398.1:p.Ser295Arg
XM_017029911.1:c.361A>C	XP_016885400.1:p.Ser121Arg
XM_024452468.1:c.28A>C	XP_024308236.1:p.Ser10Arg
XM_024452469.1:c.28A>C	XP_024308237.1:p.Ser10Arg
XM_024452470.1:c.28A>C	XP_024308238.1:p.Ser10Arg
XM_024452471.1:c.28A>C	XP_024308239.1:p.Ser10Arg
NM_003611.3:c.1303A>C MANE Select	NP_003602.1:p.Ser435Arg
NM_001330209.2:c.1183A>C	NP_001317138.1:p.Ser395Arg
NM_001330210.2:c.883A>C	NP_001317139.1:p.Ser295Arg