Canonical Allele Identifier: CA515624183

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13760683A>G , CM000685.2:g.13760683A>G	GRCh38
NC_000023.10:g.13778802A>G , CM000685.1:g.13778802A>G	GRCh37
NC_000023.9:g.13688723A>G	NCBI36
NG_008872.1:g.30971A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2223A>G MANE Select	NP_003602.1:p.Lys741=
ENST00000340096.11:c.2223A>G MANE Select	ENSP00000344314.6:p.Lys741=
NM_001330209.1:c.2103A>G	NP_001317138.1:p.Lys701=
NM_001330209.2:c.2103A>G	NP_001317138.1:p.Lys701=
NM_001330210.1:c.1803A>G	NP_001317139.1:p.Lys601=
NM_001330210.2:c.1803A>G	NP_001317139.1:p.Lys601=
NM_003611.2:c.2223A>G	NP_003602.1:p.Lys741=
ENST00000340096.10:c.2223A>G	ENSP00000344314.6:p.Lys741=
ENST00000380550.6:c.2103A>G	ENSP00000369923.3:p.Lys701=
ENST00000380567.5:c.1803A>G	ENSP00000369941.1:p.Lys601=
ENST00000380567.6:c.*1916A>G	ENSP00000369941.2:n.*1916A>G
ENST00000398395.7:c.*563A>G	ENSP00000381432.4:n.*563A>G
ENST00000398395.8:c.*1684A>G	ENSP00000381432.5:n.*1684A>G
ENST00000464463.5:n.44A>G
ENST00000464463.6:n.4052A>G
ENST00000490265.5:n.3198A>G
ENST00000490265.6:n.2752A>G
ENST00000682237.1:c.*1783A>G	ENSP00000507121.1:n.*1783A>G
ENST00000682562.1:c.*3625A>G	ENSP00000507874.1:n.*3625A>G
ENST00000682953.1:c.*2950A>G	ENSP00000507878.1:n.*2950A>G
ENST00000683055.1:c.*3204A>G	ENSP00000508191.1:n.*3204A>G
ENST00000683284.1:c.*2454A>G	ENSP00000507837.1:n.*2454A>G
ENST00000683427.1:c.*880A>G	ENSP00000507290.1:n.*880A>G
ENST00000683454.1:n.2237A>G
ENST00000683637.1:n.3332A>G
ENST00000683655.1:c.*2437A>G	ENSP00000506770.1:n.*2437A>G
ENST00000683713.1:c.*2454A>G	ENSP00000507797.1:n.*2454A>G
ENST00000684577.1:c.*1920A>G	ENSP00000507871.1:n.*1920A>G
XM_005274599.2:c.2244A>G	XP_005274656.1:p.Lys748=
XM_005274602.2:c.2244A>G	XP_005274659.1:p.Lys748=
XM_005274603.2:c.2124A>G	XP_005274660.1:p.Lys708=
XM_005274604.2:c.2103A>G	XP_005274661.1:p.Lys701=
XM_005274606.2:c.2079A>G	XP_005274663.1:p.Lys693=
XM_005274606.4:c.2079A>G	XP_005274663.1:p.Lys693=
XM_005274607.3:c.1803A>G	XP_005274664.1:p.Lys601=
XM_011545591.1:c.2244A>G	XP_011543893.1:p.Lys748=
XM_011545592.1:c.2031A>G	XP_011543894.1:p.Lys677=
XM_011545592.3:c.2031A>G	XP_011543894.1:p.Lys677=
XM_011545593.1:c.2244A>G	XP_011543895.1:p.Lys748=
XM_011545594.1:c.1902A>G	XP_011543896.1:p.Lys634=
XM_011545594.3:c.1902A>G	XP_011543896.1:p.Lys634=
XM_011545595.1:c.1902A>G	XP_011543897.1:p.Lys634=
XM_011545596.1:c.2244A>G	XP_011543898.1:p.Lys748=
XM_011545597.1:c.1803A>G	XP_011543899.1:p.Lys601=
XM_011545597.2:c.1803A>G	XP_011543899.1:p.Lys601=
XM_011545598.1:c.948A>G	XP_011543900.1:p.Lys316=
XM_017029909.1:c.1803A>G	XP_016885398.1:p.Lys601=
XM_017029911.1:c.1281A>G	XP_016885400.1:p.Lys427=
XM_024452468.1:c.948A>G	XP_024308236.1:p.Lys316=
XM_024452469.1:c.948A>G	XP_024308237.1:p.Lys316=
XM_024452470.1:c.948A>G	XP_024308238.1:p.Lys316=
XM_024452471.1:c.948A>G	XP_024308239.1:p.Lys316=
XR_247288.2:n.2583A>G