Canonical Allele Identifier: CA10352059

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13767174C>T , CM000685.2:g.13767174C>T	GRCh38
NC_000023.10:g.13785293C>T , CM000685.1:g.13785293C>T	GRCh37
NC_000023.9:g.13695214C>T	NCBI36
NG_008872.1:g.37462C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2647C>T MANE Select	NP_003602.1:p.Arg883Trp
ENST00000340096.11:c.2647C>T MANE Select	ENSP00000344314.6:p.Arg883Trp
NM_001330209.1:c.2527C>T	NP_001317138.1:p.Arg843Trp
NM_001330209.2:c.2527C>T	NP_001317138.1:p.Arg843Trp
NM_001330210.1:c.2227C>T	NP_001317139.1:p.Arg743Trp
NM_001330210.2:c.2227C>T	NP_001317139.1:p.Arg743Trp
NM_003611.2:c.2647C>T	NP_003602.1:p.Arg883Trp
ENST00000340096.10:c.2647C>T	ENSP00000344314.6:p.Arg883Trp
ENST00000380550.6:c.2527C>T	ENSP00000369923.3:p.Arg843Trp
ENST00000380567.5:c.2227C>T	ENSP00000369941.1:p.Arg743Trp
ENST00000380567.6:c.*2340C>T	ENSP00000369941.2:n.*2340C>T
ENST00000398395.7:c.*987C>T	ENSP00000381432.4:n.*987C>T
ENST00000398395.8:c.*2108C>T	ENSP00000381432.5:n.*2108C>T
ENST00000464463.5:n.357C>T
ENST00000464463.6:n.4476C>T
ENST00000490265.5:n.3622C>T
ENST00000490265.6:n.3176C>T
ENST00000682237.1:c.*2207C>T	ENSP00000507121.1:n.*2207C>T
ENST00000682562.1:c.*3938C>T	ENSP00000507874.1:n.*3938C>T
ENST00000682953.1:c.*3263C>T	ENSP00000507878.1:n.*3263C>T
ENST00000683055.1:c.*3517C>T	ENSP00000508191.1:n.*3517C>T
ENST00000683284.1:c.*2878C>T	ENSP00000507837.1:n.*2878C>T
ENST00000683427.1:c.*1304C>T	ENSP00000507290.1:n.*1304C>T
ENST00000683454.1:n.2661C>T
ENST00000683637.1:n.3756C>T
ENST00000683655.1:c.*2861C>T	ENSP00000506770.1:n.*2861C>T
ENST00000683713.1:c.*2878C>T	ENSP00000507797.1:n.*2878C>T
ENST00000684577.1:c.*2233C>T	ENSP00000507871.1:n.*2233C>T
XM_005274599.2:c.2668C>T	XP_005274656.1:p.Arg890Trp
XM_005274602.2:c.2557C>T	XP_005274659.1:p.Arg853Trp
XM_005274603.2:c.2548C>T	XP_005274660.1:p.Arg850Trp
XM_005274604.2:c.2527C>T	XP_005274661.1:p.Arg843Trp
XM_005274606.2:c.2503C>T	XP_005274663.1:p.Arg835Trp
XM_005274606.4:c.2503C>T	XP_005274663.1:p.Arg835Trp
XM_005274607.3:c.2227C>T	XP_005274664.1:p.Arg743Trp
XM_011545591.1:c.2668C>T	XP_011543893.1:p.Arg890Trp
XM_011545592.1:c.2455C>T	XP_011543894.1:p.Arg819Trp
XM_011545592.3:c.2455C>T	XP_011543894.1:p.Arg819Trp
XM_011545593.1:c.2668C>T	XP_011543895.1:p.Arg890Trp
XM_011545594.1:c.2326C>T	XP_011543896.1:p.Arg776Trp
XM_011545594.3:c.2326C>T	XP_011543896.1:p.Arg776Trp
XM_011545595.1:c.2326C>T	XP_011543897.1:p.Arg776Trp
XM_011545596.1:c.2510-880C>T	XP_011543898.1:n.2510-880C>T
XM_011545597.1:c.2116C>T	XP_011543899.1:p.Arg706Trp
XM_011545597.2:c.2116C>T	XP_011543899.1:p.Arg706Trp
XM_011545598.1:c.1372C>T	XP_011543900.1:p.Arg458Trp
XM_017029909.1:c.2227C>T	XP_016885398.1:p.Arg743Trp
XM_017029911.1:c.1705C>T	XP_016885400.1:p.Arg569Trp
XM_024452468.1:c.1372C>T	XP_024308236.1:p.Arg458Trp
XM_024452469.1:c.1372C>T	XP_024308237.1:p.Arg458Trp
XM_024452470.1:c.1372C>T	XP_024308238.1:p.Arg458Trp
XM_024452471.1:c.1261C>T	XP_024308239.1:p.Arg421Trp
XR_247288.2:n.2960-880C>T