Canonical Allele Identifier: CA412332868

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13754604T>G (hg19) ; chrX:g.13736485T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13736485T>G , CM000685.2:g.13736485T>G	GRCh38
NC_000023.10:g.13754604T>G , CM000685.1:g.13754604T>G	GRCh37
NC_000023.9:g.13664525T>G	NCBI36
NG_008872.1:g.6773T>G
NG_011555.1:g.3139A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.119T>G	ENSP00000369941.2:p.Leu40Arg
ENST00000398395.8:c.119T>G	ENSP00000381432.5:p.Leu40Arg
ENST00000464463.6:n.402T>G
ENST00000485052.6:n.612T>G
ENST00000490265.6:n.91T>G
ENST00000682237.1:c.119T>G	ENSP00000507121.1:p.Leu40Arg
ENST00000682562.1:c.119T>G	ENSP00000507874.1:p.Leu40Arg
ENST00000682953.1:c.*182T>G	ENSP00000507878.1:n.*182T>G
ENST00000683055.1:c.119T>G	ENSP00000508191.1:p.Leu40Arg
ENST00000683284.1:c.112-171T>G	ENSP00000507837.1:n.112-171T>G
ENST00000683427.1:c.119T>G	ENSP00000507290.1:p.Leu40Arg
ENST00000683454.1:n.8T>G
ENST00000683655.1:c.119T>G	ENSP00000506770.1:p.Leu40Arg
ENST00000683713.1:c.119T>G	ENSP00000507797.1:p.Leu40Arg
ENST00000684401.1:n.510T>G
ENST00000684577.1:c.119T>G	ENSP00000507871.1:p.Leu40Arg
ENST00000340096.11:c.119T>G MANE Select	ENSP00000344314.6:p.Leu40Arg
ENST00000340096.10:c.119T>G	ENSP00000344314.6:p.Leu40Arg
ENST00000380550.6:c.119T>G	ENSP00000369923.3:p.Leu40Arg
ENST00000380567.5:c.-427T>G	ENSP00000369941.1:n.-427T>G
ENST00000398395.7:c.-416T>G	ENSP00000381432.4:n.-416T>G
ENST00000485052.5:n.623T>G
ENST00000490265.5:n.430T>G
NM_003611.2:c.119T>G	NP_003602.1:p.Leu40Arg
XM_005274599.2:c.140T>G	XP_005274656.1:p.Leu47Arg
XM_005274602.2:c.140T>G	XP_005274659.1:p.Leu47Arg
XM_005274603.2:c.140T>G	XP_005274660.1:p.Leu47Arg
XM_005274604.2:c.119T>G	XP_005274661.1:p.Leu40Arg
XM_005274606.2:c.-26T>G	XP_005274663.1:n.-26T>G
XM_011545591.1:c.140T>G	XP_011543893.1:p.Leu47Arg
XM_011545592.1:c.98-171T>G	XP_011543894.1:n.98-171T>G
XM_011545593.1:c.140T>G	XP_011543895.1:p.Leu47Arg
XM_011545594.1:c.-32-171T>G	XP_011543896.1:n.-32-171T>G
XM_011545595.1:c.-32-171T>G	XP_011543897.1:n.-32-171T>G
XM_011545596.1:c.140T>G	XP_011543898.1:p.Leu47Arg
XM_011545597.1:c.-427T>G	XP_011543899.1:n.-427T>G
XR_247288.2:n.479T>G
NM_001330209.1:c.119T>G	NP_001317138.1:p.Leu40Arg
NM_001330210.1:c.-427T>G	NP_001317139.1:n.-427T>G
XM_005274606.4:c.-26T>G	XP_005274663.1:n.-26T>G
XM_011545592.3:c.98-171T>G	XP_011543894.1:n.98-171T>G
XM_011545594.3:c.-32-171T>G	XP_011543896.1:n.-32-171T>G
XM_011545597.2:c.-427T>G	XP_011543899.1:n.-427T>G
XM_017029909.1:c.-256-171T>G	XP_016885398.1:n.-256-171T>G
XM_024452468.1:c.-1821T>G	XP_024308236.1:n.-1821T>G
XM_024452469.1:c.-1821T>G	XP_024308237.1:n.-1821T>G
XM_024452470.1:c.-1650-171T>G	XP_024308238.1:n.-1650-171T>G
XM_024452471.1:c.-1821T>G	XP_024308239.1:n.-1821T>G
NM_003611.3:c.119T>G MANE Select	NP_003602.1:p.Leu40Arg
NM_001330209.2:c.119T>G	NP_001317138.1:p.Leu40Arg
NM_001330210.2:c.-427T>G	NP_001317139.1:n.-427T>G