Canonical Allele Identifier: CA412339144

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13749534G>C , CM000685.2:g.13749534G>C	GRCh38
NC_000023.10:g.13767653G>C , CM000685.1:g.13767653G>C	GRCh37
NC_000023.9:g.13677574G>C	NCBI36
NG_008872.1:g.19822G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.935+1G>C MANE Select	NP_003602.1:n.935+1G>C
ENST00000340096.11:c.935+1G>C MANE Select	ENSP00000344314.6:n.935+1G>C
NM_001330209.1:c.935+1G>C	NP_001317138.1:n.935+1G>C
NM_001330209.2:c.935+1G>C	NP_001317138.1:n.935+1G>C
NM_001330210.1:c.515+1G>C	NP_001317139.1:n.515+1G>C
NM_001330210.2:c.515+1G>C	NP_001317139.1:n.515+1G>C
NM_003611.2:c.935+1G>C	NP_003602.1:n.935+1G>C
ENST00000340096.10:c.935+1G>C	ENSP00000344314.6:n.935+1G>C
ENST00000380550.6:c.935+1G>C	ENSP00000369923.3:n.935+1G>C
ENST00000380567.5:c.515+1G>C	ENSP00000369941.1:n.515+1G>C
ENST00000380567.6:c.*628+1G>C	ENSP00000369941.2:n.*628+1G>C
ENST00000398395.7:c.524+1G>C	ENSP00000381432.4:n.524+1G>C
ENST00000398395.8:c.*628+1G>C	ENSP00000381432.5:n.*628+1G>C
ENST00000464463.6:n.1218+1G>C
ENST00000490265.5:n.1246+1G>C
ENST00000490265.6:n.800+1G>C
ENST00000682237.1:c.935+1G>C	ENSP00000507121.1:n.935+1G>C
ENST00000682562.1:c.*628+1G>C	ENSP00000507874.1:n.*628+1G>C
ENST00000682953.1:c.*998+1G>C	ENSP00000507878.1:n.*998+1G>C
ENST00000683055.1:c.830+1G>C	ENSP00000508191.1:n.830+1G>C
ENST00000683065.1:n.344+1G>C
ENST00000683284.1:c.*502+1G>C	ENSP00000507837.1:n.*502+1G>C
ENST00000683427.1:c.935+1G>C	ENSP00000507290.1:n.935+1G>C
ENST00000683454.1:n.949+1G>C
ENST00000683637.1:n.1380+1G>C
ENST00000683655.1:c.*485+1G>C	ENSP00000506770.1:n.*485+1G>C
ENST00000683713.1:c.*502+1G>C	ENSP00000507797.1:n.*502+1G>C
ENST00000684577.1:c.*628+1G>C	ENSP00000507871.1:n.*628+1G>C
XM_005274599.2:c.956+1G>C	XP_005274656.1:n.956+1G>C
XM_005274602.2:c.956+1G>C	XP_005274659.1:n.956+1G>C
XM_005274603.2:c.956+1G>C	XP_005274660.1:n.956+1G>C
XM_005274604.2:c.935+1G>C	XP_005274661.1:n.935+1G>C
XM_005274606.2:c.791+1G>C	XP_005274663.1:n.791+1G>C
XM_005274606.4:c.791+1G>C	XP_005274663.1:n.791+1G>C
XM_005274607.3:c.515+1G>C	XP_005274664.1:n.515+1G>C
XM_011545591.1:c.956+1G>C	XP_011543893.1:n.956+1G>C
XM_011545592.1:c.743+1G>C	XP_011543894.1:n.743+1G>C
XM_011545592.3:c.743+1G>C	XP_011543894.1:n.743+1G>C
XM_011545593.1:c.956+1G>C	XP_011543895.1:n.956+1G>C
XM_011545594.1:c.614+1G>C	XP_011543896.1:n.614+1G>C
XM_011545594.3:c.614+1G>C	XP_011543896.1:n.614+1G>C
XM_011545595.1:c.614+1G>C	XP_011543897.1:n.614+1G>C
XM_011545596.1:c.956+1G>C	XP_011543898.1:n.956+1G>C
XM_011545597.1:c.515+1G>C	XP_011543899.1:n.515+1G>C
XM_011545597.2:c.515+1G>C	XP_011543899.1:n.515+1G>C
XM_017029909.1:c.515+1G>C	XP_016885398.1:n.515+1G>C
XM_024452468.1:c.-1005+1G>C	XP_024308236.1:n.-1005+1G>C
XM_024452469.1:c.-1005+1G>C	XP_024308237.1:n.-1005+1G>C
XM_024452470.1:c.-1005+1G>C	XP_024308238.1:n.-1005+1G>C
XM_024452471.1:c.-1005+1G>C	XP_024308239.1:n.-1005+1G>C
XR_247288.2:n.1295+1G>C