Canonical Allele Identifier: CA10352056

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13767123T>G , CM000685.2:g.13767123T>G	GRCh38
NC_000023.10:g.13785242T>G , CM000685.1:g.13785242T>G	GRCh37
NC_000023.9:g.13695163T>G	NCBI36
NG_008872.1:g.37411T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2600-4T>G MANE Select	NP_003602.1:n.2600-4T>G
ENST00000340096.11:c.2600-4T>G MANE Select	ENSP00000344314.6:n.2600-4T>G
NM_001330209.1:c.2480-4T>G	NP_001317138.1:n.2480-4T>G
NM_001330209.2:c.2480-4T>G	NP_001317138.1:n.2480-4T>G
NM_001330210.1:c.2180-4T>G	NP_001317139.1:n.2180-4T>G
NM_001330210.2:c.2180-4T>G	NP_001317139.1:n.2180-4T>G
NM_003611.2:c.2600-4T>G	NP_003602.1:n.2600-4T>G
ENST00000340096.10:c.2600-4T>G	ENSP00000344314.6:n.2600-4T>G
ENST00000380550.6:c.2480-4T>G	ENSP00000369923.3:n.2480-4T>G
ENST00000380567.5:c.2180-4T>G	ENSP00000369941.1:n.2180-4T>G
ENST00000380567.6:c.*2293-4T>G	ENSP00000369941.2:n.*2293-4T>G
ENST00000398395.7:c.*940-4T>G	ENSP00000381432.4:n.*940-4T>G
ENST00000398395.8:c.*2061-4T>G	ENSP00000381432.5:n.*2061-4T>G
ENST00000464463.5:n.310-4T>G
ENST00000464463.6:n.4429-4T>G
ENST00000490265.5:n.3575-4T>G
ENST00000490265.6:n.3129-4T>G
ENST00000682237.1:c.*2160-4T>G	ENSP00000507121.1:n.*2160-4T>G
ENST00000682562.1:c.*3891-4T>G	ENSP00000507874.1:n.*3891-4T>G
ENST00000682953.1:c.*3216-4T>G	ENSP00000507878.1:n.*3216-4T>G
ENST00000683055.1:c.*3470-4T>G	ENSP00000508191.1:n.*3470-4T>G
ENST00000683284.1:c.*2831-4T>G	ENSP00000507837.1:n.*2831-4T>G
ENST00000683427.1:c.*1257-4T>G	ENSP00000507290.1:n.*1257-4T>G
ENST00000683454.1:n.2614-4T>G
ENST00000683637.1:n.3709-4T>G
ENST00000683655.1:c.*2814-4T>G	ENSP00000506770.1:n.*2814-4T>G
ENST00000683713.1:c.*2831-4T>G	ENSP00000507797.1:n.*2831-4T>G
ENST00000684577.1:c.*2186-4T>G	ENSP00000507871.1:n.*2186-4T>G
XM_005274599.2:c.2621-4T>G	XP_005274656.1:n.2621-4T>G
XM_005274602.2:c.2510-4T>G	XP_005274659.1:n.2510-4T>G
XM_005274603.2:c.2501-4T>G	XP_005274660.1:n.2501-4T>G
XM_005274604.2:c.2480-4T>G	XP_005274661.1:n.2480-4T>G
XM_005274606.2:c.2456-4T>G	XP_005274663.1:n.2456-4T>G
XM_005274606.4:c.2456-4T>G	XP_005274663.1:n.2456-4T>G
XM_005274607.3:c.2180-4T>G	XP_005274664.1:n.2180-4T>G
XM_011545591.1:c.2621-4T>G	XP_011543893.1:n.2621-4T>G
XM_011545592.1:c.2408-4T>G	XP_011543894.1:n.2408-4T>G
XM_011545592.3:c.2408-4T>G	XP_011543894.1:n.2408-4T>G
XM_011545593.1:c.2621-4T>G	XP_011543895.1:n.2621-4T>G
XM_011545594.1:c.2279-4T>G	XP_011543896.1:n.2279-4T>G
XM_011545594.3:c.2279-4T>G	XP_011543896.1:n.2279-4T>G
XM_011545595.1:c.2279-4T>G	XP_011543897.1:n.2279-4T>G
XM_011545596.1:c.2510-931T>G	XP_011543898.1:n.2510-931T>G
XM_011545597.1:c.2069-4T>G	XP_011543899.1:n.2069-4T>G
XM_011545597.2:c.2069-4T>G	XP_011543899.1:n.2069-4T>G
XM_011545598.1:c.1325-4T>G	XP_011543900.1:n.1325-4T>G
XM_017029909.1:c.2180-4T>G	XP_016885398.1:n.2180-4T>G
XM_017029911.1:c.1658-4T>G	XP_016885400.1:n.1658-4T>G
XM_024452468.1:c.1325-4T>G	XP_024308236.1:n.1325-4T>G
XM_024452469.1:c.1325-4T>G	XP_024308237.1:n.1325-4T>G
XM_024452470.1:c.1325-4T>G	XP_024308238.1:n.1325-4T>G
XM_024452471.1:c.1214-4T>G	XP_024308239.1:n.1214-4T>G
XR_247288.2:n.2960-931T>G