Canonical Allele Identifier: CA10351902

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13760339T>C , CM000685.2:g.13760339T>C	GRCh38
NC_000023.10:g.13778458T>C , CM000685.1:g.13778458T>C	GRCh37
NC_000023.9:g.13688379T>C	NCBI36
NG_008872.1:g.30627T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1879T>C MANE Select	NP_003602.1:p.Phe627Leu
ENST00000340096.11:c.1879T>C MANE Select	ENSP00000344314.6:p.Phe627Leu
NM_001330209.1:c.1759T>C	NP_001317138.1:p.Phe587Leu
NM_001330209.2:c.1759T>C	NP_001317138.1:p.Phe587Leu
NM_001330210.1:c.1459T>C	NP_001317139.1:p.Phe487Leu
NM_001330210.2:c.1459T>C	NP_001317139.1:p.Phe487Leu
NM_003611.2:c.1879T>C	NP_003602.1:p.Phe627Leu
ENST00000340096.10:c.1879T>C	ENSP00000344314.6:p.Phe627Leu
ENST00000380550.6:c.1759T>C	ENSP00000369923.3:p.Phe587Leu
ENST00000380567.5:c.1459T>C	ENSP00000369941.1:p.Phe487Leu
ENST00000380567.6:c.*1572T>C	ENSP00000369941.2:n.*1572T>C
ENST00000398395.7:c.*219T>C	ENSP00000381432.4:n.*219T>C
ENST00000398395.8:c.*1340T>C	ENSP00000381432.5:n.*1340T>C
ENST00000464463.6:n.3708T>C
ENST00000490265.5:n.2854T>C
ENST00000490265.6:n.2408T>C
ENST00000682237.1:c.*1439T>C	ENSP00000507121.1:n.*1439T>C
ENST00000682562.1:c.*3281T>C	ENSP00000507874.1:n.*3281T>C
ENST00000682953.1:c.*2606T>C	ENSP00000507878.1:n.*2606T>C
ENST00000683055.1:c.*2860T>C	ENSP00000508191.1:n.*2860T>C
ENST00000683284.1:c.*2110T>C	ENSP00000507837.1:n.*2110T>C
ENST00000683427.1:c.*536T>C	ENSP00000507290.1:n.*536T>C
ENST00000683454.1:n.1893T>C
ENST00000683637.1:n.2988T>C
ENST00000683655.1:c.*2093T>C	ENSP00000506770.1:n.*2093T>C
ENST00000683713.1:c.*2110T>C	ENSP00000507797.1:n.*2110T>C
ENST00000684577.1:c.*1576T>C	ENSP00000507871.1:n.*1576T>C
XM_005274599.2:c.1900T>C	XP_005274656.1:p.Phe634Leu
XM_005274602.2:c.1900T>C	XP_005274659.1:p.Phe634Leu
XM_005274603.2:c.1780T>C	XP_005274660.1:p.Phe594Leu
XM_005274604.2:c.1759T>C	XP_005274661.1:p.Phe587Leu
XM_005274606.2:c.1735T>C	XP_005274663.1:p.Phe579Leu
XM_005274606.4:c.1735T>C	XP_005274663.1:p.Phe579Leu
XM_005274607.3:c.1459T>C	XP_005274664.1:p.Phe487Leu
XM_011545591.1:c.1900T>C	XP_011543893.1:p.Phe634Leu
XM_011545592.1:c.1687T>C	XP_011543894.1:p.Phe563Leu
XM_011545592.3:c.1687T>C	XP_011543894.1:p.Phe563Leu
XM_011545593.1:c.1900T>C	XP_011543895.1:p.Phe634Leu
XM_011545594.1:c.1558T>C	XP_011543896.1:p.Phe520Leu
XM_011545594.3:c.1558T>C	XP_011543896.1:p.Phe520Leu
XM_011545595.1:c.1558T>C	XP_011543897.1:p.Phe520Leu
XM_011545596.1:c.1900T>C	XP_011543898.1:p.Phe634Leu
XM_011545597.1:c.1459T>C	XP_011543899.1:p.Phe487Leu
XM_011545597.2:c.1459T>C	XP_011543899.1:p.Phe487Leu
XM_011545598.1:c.604T>C	XP_011543900.1:p.Phe202Leu
XM_017029909.1:c.1459T>C	XP_016885398.1:p.Phe487Leu
XM_017029911.1:c.937T>C	XP_016885400.1:p.Phe313Leu
XM_024452468.1:c.604T>C	XP_024308236.1:p.Phe202Leu
XM_024452469.1:c.604T>C	XP_024308237.1:p.Phe202Leu
XM_024452470.1:c.604T>C	XP_024308238.1:p.Phe202Leu
XM_024452471.1:c.604T>C	XP_024308239.1:p.Phe202Leu
XR_247288.2:n.2239T>C