Canonical Allele Identifier: CA2693132502

Gene: OFD1

Linked Data

• gnomAD v4: X-13761002-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13761002C>A , CM000685.2:g.13761002C>A	GRCh38
NC_000023.10:g.13779121C>A , CM000685.1:g.13779121C>A	GRCh37
NC_000023.9:g.13689042C>A	NCBI36
NG_008872.1:g.31290C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380567.6:c.*1954-83C>A	ENSP00000369941.2:n.*1954-83C>A
ENST00000398395.8:c.*1722-83C>A	ENSP00000381432.5:n.*1722-83C>A
ENST00000464463.6:n.4090-83C>A
ENST00000490265.6:n.2790-83C>A
ENST00000682237.1:c.*1821-83C>A	ENSP00000507121.1:n.*1821-83C>A
ENST00000682562.1:c.*3663-83C>A	ENSP00000507874.1:n.*3663-83C>A
ENST00000682953.1:c.*2988-83C>A	ENSP00000507878.1:n.*2988-83C>A
ENST00000683055.1:c.*3242-83C>A	ENSP00000508191.1:n.*3242-83C>A
ENST00000683284.1:c.*2492-83C>A	ENSP00000507837.1:n.*2492-83C>A
ENST00000683427.1:c.*918-83C>A	ENSP00000507290.1:n.*918-83C>A
ENST00000683454.1:n.2275-83C>A
ENST00000683637.1:n.3370-83C>A
ENST00000683655.1:c.*2475-83C>A	ENSP00000506770.1:n.*2475-83C>A
ENST00000683713.1:c.*2492-83C>A	ENSP00000507797.1:n.*2492-83C>A
ENST00000684577.1:c.*1958-83C>A	ENSP00000507871.1:n.*1958-83C>A
ENST00000340096.11:c.2261-83C>A MANE Select	ENSP00000344314.6:n.2261-83C>A
ENST00000340096.10:c.2261-83C>A	ENSP00000344314.6:n.2261-83C>A
ENST00000380550.6:c.2141-83C>A	ENSP00000369923.3:n.2141-83C>A
ENST00000380567.5:c.1841-83C>A	ENSP00000369941.1:n.1841-83C>A
ENST00000398395.7:c.*601-83C>A	ENSP00000381432.4:n.*601-83C>A
ENST00000464463.5:n.82-83C>A
ENST00000490265.5:n.3236-83C>A
NM_003611.2:c.2261-83C>A	NP_003602.1:n.2261-83C>A
XM_005274599.2:c.2282-83C>A	XP_005274656.1:n.2282-83C>A
XM_005274602.2:c.2282-83C>A	XP_005274659.1:n.2282-83C>A
XM_005274603.2:c.2162-83C>A	XP_005274660.1:n.2162-83C>A
XM_005274604.2:c.2141-83C>A	XP_005274661.1:n.2141-83C>A
XM_005274606.2:c.2117-83C>A	XP_005274663.1:n.2117-83C>A
XM_005274607.3:c.1841-83C>A	XP_005274664.1:n.1841-83C>A
XM_011545591.1:c.2282-83C>A	XP_011543893.1:n.2282-83C>A
XM_011545592.1:c.2069-83C>A	XP_011543894.1:n.2069-83C>A
XM_011545593.1:c.2282-83C>A	XP_011543895.1:n.2282-83C>A
XM_011545594.1:c.1940-83C>A	XP_011543896.1:n.1940-83C>A
XM_011545595.1:c.1940-83C>A	XP_011543897.1:n.1940-83C>A
XM_011545596.1:c.2282-83C>A	XP_011543898.1:n.2282-83C>A
XM_011545597.1:c.1841-83C>A	XP_011543899.1:n.1841-83C>A
XM_011545598.1:c.986-83C>A	XP_011543900.1:n.986-83C>A
XR_247288.2:n.2621-83C>A
NM_001330209.1:c.2141-83C>A	NP_001317138.1:n.2141-83C>A
NM_001330210.1:c.1841-83C>A	NP_001317139.1:n.1841-83C>A
XM_005274606.4:c.2117-83C>A	XP_005274663.1:n.2117-83C>A
XM_011545592.3:c.2069-83C>A	XP_011543894.1:n.2069-83C>A
XM_011545594.3:c.1940-83C>A	XP_011543896.1:n.1940-83C>A
XM_011545597.2:c.1841-83C>A	XP_011543899.1:n.1841-83C>A
XM_017029909.1:c.1841-83C>A	XP_016885398.1:n.1841-83C>A
XM_017029911.1:c.1319-83C>A	XP_016885400.1:n.1319-83C>A
XM_024452468.1:c.986-83C>A	XP_024308236.1:n.986-83C>A
XM_024452469.1:c.986-83C>A	XP_024308237.1:n.986-83C>A
XM_024452470.1:c.986-83C>A	XP_024308238.1:n.986-83C>A
XM_024452471.1:c.986-83C>A	XP_024308239.1:n.986-83C>A
NM_003611.3:c.2261-83C>A MANE Select	NP_003602.1:n.2261-83C>A
NM_001330209.2:c.2141-83C>A	NP_001317138.1:n.2141-83C>A
NM_001330210.2:c.1841-83C>A	NP_001317139.1:n.1841-83C>A