Canonical Allele Identifier: CA412343431

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13776528G>T (hg19) ; chrX:g.13758409G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758409G>T , CM000685.2:g.13758409G>T	GRCh38
NC_000023.10:g.13776528G>T , CM000685.1:g.13776528G>T	GRCh37
NC_000023.9:g.13686449G>T	NCBI36
NG_008872.1:g.28697G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1308G>T	ENSP00000369941.2:n.*1308G>T
ENST00000398395.8:c.*1115+619G>T	ENSP00000381432.5:n.*1115+619G>T
ENST00000464463.6:n.1778G>T
ENST00000490265.6:n.2144G>T
ENST00000682237.1:c.*1175G>T	ENSP00000507121.1:n.*1175G>T
ENST00000682562.1:c.*3017G>T	ENSP00000507874.1:n.*3017G>T
ENST00000682953.1:c.*2342G>T	ENSP00000507878.1:n.*2342G>T
ENST00000683055.1:c.*930G>T	ENSP00000508191.1:n.*930G>T
ENST00000683284.1:c.*1846G>T	ENSP00000507837.1:n.*1846G>T
ENST00000683427.1:c.*311+619G>T	ENSP00000507290.1:n.*311+619G>T
ENST00000683454.1:n.1629G>T
ENST00000683637.1:n.2724G>T
ENST00000683655.1:c.*1829G>T	ENSP00000506770.1:n.*1829G>T
ENST00000683713.1:c.*1846G>T	ENSP00000507797.1:n.*1846G>T
ENST00000684577.1:c.*1312G>T	ENSP00000507871.1:n.*1312G>T
ENST00000340096.11:c.1615G>T MANE Select	ENSP00000344314.6:p.Val539Phe
ENST00000340096.10:c.1615G>T	ENSP00000344314.6:p.Val539Phe
ENST00000380550.6:c.1495G>T	ENSP00000369923.3:p.Val499Phe
ENST00000380567.5:c.1195G>T	ENSP00000369941.1:p.Val399Phe
ENST00000398395.7:c.1011+619G>T	ENSP00000381432.4:n.1011+619G>T
ENST00000490265.5:n.2590G>T
NM_003611.2:c.1615G>T	NP_003602.1:p.Val539Phe
XM_005274599.2:c.1636G>T	XP_005274656.1:p.Val546Phe
XM_005274602.2:c.1636G>T	XP_005274659.1:p.Val546Phe
XM_005274603.2:c.1516G>T	XP_005274660.1:p.Val506Phe
XM_005274604.2:c.1495G>T	XP_005274661.1:p.Val499Phe
XM_005274606.2:c.1471G>T	XP_005274663.1:p.Val491Phe
XM_005274607.3:c.1195G>T	XP_005274664.1:p.Val399Phe
XM_011545591.1:c.1636G>T	XP_011543893.1:p.Val546Phe
XM_011545592.1:c.1423G>T	XP_011543894.1:p.Val475Phe
XM_011545593.1:c.1636G>T	XP_011543895.1:p.Val546Phe
XM_011545594.1:c.1294G>T	XP_011543896.1:p.Val432Phe
XM_011545595.1:c.1294G>T	XP_011543897.1:p.Val432Phe
XM_011545596.1:c.1636G>T	XP_011543898.1:p.Val546Phe
XM_011545597.1:c.1195G>T	XP_011543899.1:p.Val399Phe
XM_011545598.1:c.340G>T	XP_011543900.1:p.Val114Phe
XR_247288.2:n.1975G>T
NM_001330209.1:c.1495G>T	NP_001317138.1:p.Val499Phe
NM_001330210.1:c.1195G>T	NP_001317139.1:p.Val399Phe
XM_005274606.4:c.1471G>T	XP_005274663.1:p.Val491Phe
XM_011545592.3:c.1423G>T	XP_011543894.1:p.Val475Phe
XM_011545594.3:c.1294G>T	XP_011543896.1:p.Val432Phe
XM_011545597.2:c.1195G>T	XP_011543899.1:p.Val399Phe
XM_017029909.1:c.1195G>T	XP_016885398.1:p.Val399Phe
XM_017029911.1:c.673G>T	XP_016885400.1:p.Val225Phe
XM_024452468.1:c.340G>T	XP_024308236.1:p.Val114Phe
XM_024452469.1:c.340G>T	XP_024308237.1:p.Val114Phe
XM_024452470.1:c.340G>T	XP_024308238.1:p.Val114Phe
XM_024452471.1:c.340G>T	XP_024308239.1:p.Val114Phe
NM_003611.3:c.1615G>T MANE Select	NP_003602.1:p.Val539Phe
NM_001330209.2:c.1495G>T	NP_001317138.1:p.Val499Phe
NM_001330210.2:c.1195G>T	NP_001317139.1:p.Val399Phe