Canonical Allele Identifier: CA10351879

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13760159G>A , CM000685.2:g.13760159G>A	GRCh38
NC_000023.10:g.13778278G>A , CM000685.1:g.13778278G>A	GRCh37
NC_000023.9:g.13688199G>A	NCBI36
NG_008872.1:g.30447G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1699G>A MANE Select	NP_003602.1:p.Asp567Asn
ENST00000340096.11:c.1699G>A MANE Select	ENSP00000344314.6:p.Asp567Asn
NM_001330209.1:c.1579G>A	NP_001317138.1:p.Asp527Asn
NM_001330209.2:c.1579G>A	NP_001317138.1:p.Asp527Asn
NM_001330210.1:c.1279G>A	NP_001317139.1:p.Asp427Asn
NM_001330210.2:c.1279G>A	NP_001317139.1:p.Asp427Asn
NM_003611.2:c.1699G>A	NP_003602.1:p.Asp567Asn
ENST00000340096.10:c.1699G>A	ENSP00000344314.6:p.Asp567Asn
ENST00000380550.6:c.1579G>A	ENSP00000369923.3:p.Asp527Asn
ENST00000380567.5:c.1279G>A	ENSP00000369941.1:p.Asp427Asn
ENST00000380567.6:c.*1392G>A	ENSP00000369941.2:n.*1392G>A
ENST00000398395.7:c.*39G>A	ENSP00000381432.4:n.*39G>A
ENST00000398395.8:c.*1160G>A	ENSP00000381432.5:n.*1160G>A
ENST00000464463.6:n.3528G>A
ENST00000490265.5:n.2674G>A
ENST00000490265.6:n.2228G>A
ENST00000682237.1:c.*1259G>A	ENSP00000507121.1:n.*1259G>A
ENST00000682562.1:c.*3101G>A	ENSP00000507874.1:n.*3101G>A
ENST00000682953.1:c.*2426G>A	ENSP00000507878.1:n.*2426G>A
ENST00000683055.1:c.*2680G>A	ENSP00000508191.1:n.*2680G>A
ENST00000683284.1:c.*1930G>A	ENSP00000507837.1:n.*1930G>A
ENST00000683427.1:c.*356G>A	ENSP00000507290.1:n.*356G>A
ENST00000683454.1:n.1713G>A
ENST00000683637.1:n.2808G>A
ENST00000683655.1:c.*1913G>A	ENSP00000506770.1:n.*1913G>A
ENST00000683713.1:c.*1930G>A	ENSP00000507797.1:n.*1930G>A
ENST00000684577.1:c.*1396G>A	ENSP00000507871.1:n.*1396G>A
XM_005274599.2:c.1720G>A	XP_005274656.1:p.Asp574Asn
XM_005274602.2:c.1720G>A	XP_005274659.1:p.Asp574Asn
XM_005274603.2:c.1600G>A	XP_005274660.1:p.Asp534Asn
XM_005274604.2:c.1579G>A	XP_005274661.1:p.Asp527Asn
XM_005274606.2:c.1555G>A	XP_005274663.1:p.Asp519Asn
XM_005274606.4:c.1555G>A	XP_005274663.1:p.Asp519Asn
XM_005274607.3:c.1279G>A	XP_005274664.1:p.Asp427Asn
XM_011545591.1:c.1720G>A	XP_011543893.1:p.Asp574Asn
XM_011545592.1:c.1507G>A	XP_011543894.1:p.Asp503Asn
XM_011545592.3:c.1507G>A	XP_011543894.1:p.Asp503Asn
XM_011545593.1:c.1720G>A	XP_011543895.1:p.Asp574Asn
XM_011545594.1:c.1378G>A	XP_011543896.1:p.Asp460Asn
XM_011545594.3:c.1378G>A	XP_011543896.1:p.Asp460Asn
XM_011545595.1:c.1378G>A	XP_011543897.1:p.Asp460Asn
XM_011545596.1:c.1720G>A	XP_011543898.1:p.Asp574Asn
XM_011545597.1:c.1279G>A	XP_011543899.1:p.Asp427Asn
XM_011545597.2:c.1279G>A	XP_011543899.1:p.Asp427Asn
XM_011545598.1:c.424G>A	XP_011543900.1:p.Asp142Asn
XM_017029909.1:c.1279G>A	XP_016885398.1:p.Asp427Asn
XM_017029911.1:c.757G>A	XP_016885400.1:p.Asp253Asn
XM_024452468.1:c.424G>A	XP_024308236.1:p.Asp142Asn
XM_024452469.1:c.424G>A	XP_024308237.1:p.Asp142Asn
XM_024452470.1:c.424G>A	XP_024308238.1:p.Asp142Asn
XM_024452471.1:c.424G>A	XP_024308239.1:p.Asp142Asn
XR_247288.2:n.2059G>A