Canonical Allele Identifier: CA10351751

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13753440A>C , CM000685.2:g.13753440A>C	GRCh38
NC_000023.10:g.13771559A>C , CM000685.1:g.13771559A>C	GRCh37
NC_000023.9:g.13681480A>C	NCBI36
NG_008872.1:g.23728A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1128A>C MANE Select	NP_003602.1:p.Lys376Asn
ENST00000340096.11:c.1128A>C MANE Select	ENSP00000344314.6:p.Lys376Asn
NM_001330209.1:c.1008A>C	NP_001317138.1:p.Lys336Asn
NM_001330209.2:c.1008A>C	NP_001317138.1:p.Lys336Asn
NM_001330210.1:c.708A>C	NP_001317139.1:p.Lys236Asn
NM_001330210.2:c.708A>C	NP_001317139.1:p.Lys236Asn
NM_003611.2:c.1128A>C	NP_003602.1:p.Lys376Asn
ENST00000340096.10:c.1128A>C	ENSP00000344314.6:p.Lys376Asn
ENST00000380550.6:c.1008A>C	ENSP00000369923.3:p.Lys336Asn
ENST00000380567.5:c.708A>C	ENSP00000369941.1:p.Lys236Asn
ENST00000380567.6:c.*821A>C	ENSP00000369941.2:n.*821A>C
ENST00000398395.7:c.597A>C	ENSP00000381432.4:p.Lys199Asn
ENST00000398395.8:c.*701A>C	ENSP00000381432.5:n.*701A>C
ENST00000464463.6:n.1291A>C
ENST00000490265.5:n.2103A>C
ENST00000490265.6:n.1657A>C
ENST00000682237.1:c.*688A>C	ENSP00000507121.1:n.*688A>C
ENST00000682562.1:c.*821A>C	ENSP00000507874.1:n.*821A>C
ENST00000682953.1:c.*1855A>C	ENSP00000507878.1:n.*1855A>C
ENST00000683055.1:c.831-3138A>C	ENSP00000508191.1:n.831-3138A>C
ENST00000683065.1:n.417A>C
ENST00000683284.1:c.*1359A>C	ENSP00000507837.1:n.*1359A>C
ENST00000683427.1:c.936-3138A>C	ENSP00000507290.1:n.936-3138A>C
ENST00000683454.1:n.1142A>C
ENST00000683637.1:n.2237A>C
ENST00000683655.1:c.*1342A>C	ENSP00000506770.1:n.*1342A>C
ENST00000683713.1:c.*1359A>C	ENSP00000507797.1:n.*1359A>C
ENST00000684577.1:c.*821A>C	ENSP00000507871.1:n.*821A>C
XM_005274599.2:c.1149A>C	XP_005274656.1:p.Lys383Asn
XM_005274602.2:c.1149A>C	XP_005274659.1:p.Lys383Asn
XM_005274603.2:c.1029A>C	XP_005274660.1:p.Lys343Asn
XM_005274604.2:c.1008A>C	XP_005274661.1:p.Lys336Asn
XM_005274606.2:c.984A>C	XP_005274663.1:p.Lys328Asn
XM_005274606.4:c.984A>C	XP_005274663.1:p.Lys328Asn
XM_005274607.3:c.708A>C	XP_005274664.1:p.Lys236Asn
XM_011545591.1:c.1149A>C	XP_011543893.1:p.Lys383Asn
XM_011545592.1:c.936A>C	XP_011543894.1:p.Lys312Asn
XM_011545592.3:c.936A>C	XP_011543894.1:p.Lys312Asn
XM_011545593.1:c.1149A>C	XP_011543895.1:p.Lys383Asn
XM_011545594.1:c.807A>C	XP_011543896.1:p.Lys269Asn
XM_011545594.3:c.807A>C	XP_011543896.1:p.Lys269Asn
XM_011545595.1:c.807A>C	XP_011543897.1:p.Lys269Asn
XM_011545596.1:c.1149A>C	XP_011543898.1:p.Lys383Asn
XM_011545597.1:c.708A>C	XP_011543899.1:p.Lys236Asn
XM_011545597.2:c.708A>C	XP_011543899.1:p.Lys236Asn
XM_011545598.1:c.-55+2072A>C	XP_011543900.1:n.-55+2072A>C
XM_017029909.1:c.708A>C	XP_016885398.1:p.Lys236Asn
XM_017029911.1:c.186A>C	XP_016885400.1:p.Lys62Asn
XM_024452468.1:c.-148A>C	XP_024308236.1:n.-148A>C
XM_024452469.1:c.-148A>C	XP_024308237.1:n.-148A>C
XM_024452470.1:c.-148A>C	XP_024308238.1:n.-148A>C
XM_024452471.1:c.-148A>C	XP_024308239.1:n.-148A>C
XR_247288.2:n.1488A>C