Canonical Allele Identifier: CA209289

Gene: OFD1

Linked Data

• ClinVar Variation Id: 211789
• ClinVar RCV Id: RCV000194850 ; RCV004020333
• dbSNP Id: rs797045848
• MyVariant Identifiers: chrX:g.13785277G>A (hg19) ; chrX:g.13767158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13767158G>A , CM000685.2:g.13767158G>A	GRCh38
NC_000023.10:g.13785277G>A , CM000685.1:g.13785277G>A	GRCh37
NC_000023.9:g.13695198G>A	NCBI36
NG_008872.1:g.37446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*2324G>A	ENSP00000369941.2:n.*2324G>A
ENST00000398395.8:c.*2092G>A	ENSP00000381432.5:n.*2092G>A
ENST00000464463.6:n.4460G>A
ENST00000490265.6:n.3160G>A
ENST00000682237.1:c.*2191G>A	ENSP00000507121.1:n.*2191G>A
ENST00000682562.1:c.*3922G>A	ENSP00000507874.1:n.*3922G>A
ENST00000682953.1:c.*3247G>A	ENSP00000507878.1:n.*3247G>A
ENST00000683055.1:c.*3501G>A	ENSP00000508191.1:n.*3501G>A
ENST00000683284.1:c.*2862G>A	ENSP00000507837.1:n.*2862G>A
ENST00000683427.1:c.*1288G>A	ENSP00000507290.1:n.*1288G>A
ENST00000683454.1:n.2645G>A
ENST00000683637.1:n.3740G>A
ENST00000683655.1:c.*2845G>A	ENSP00000506770.1:n.*2845G>A
ENST00000683713.1:c.*2862G>A	ENSP00000507797.1:n.*2862G>A
ENST00000684577.1:c.*2217G>A	ENSP00000507871.1:n.*2217G>A
ENST00000340096.11:c.2631G>A MANE Select	ENSP00000344314.6:p.Lys877=
ENST00000340096.10:c.2631G>A	ENSP00000344314.6:p.Lys877=
ENST00000380550.6:c.2511G>A	ENSP00000369923.3:p.Lys837=
ENST00000380567.5:c.2211G>A	ENSP00000369941.1:p.Lys737=
ENST00000398395.7:c.*971G>A	ENSP00000381432.4:n.*971G>A
ENST00000464463.5:n.341G>A
ENST00000490265.5:n.3606G>A
NM_003611.2:c.2631G>A	NP_003602.1:p.Lys877=
XM_005274599.2:c.2652G>A	XP_005274656.1:p.Lys884=
XM_005274602.2:c.2541G>A	XP_005274659.1:p.Lys847=
XM_005274603.2:c.2532G>A	XP_005274660.1:p.Lys844=
XM_005274604.2:c.2511G>A	XP_005274661.1:p.Lys837=
XM_005274606.2:c.2487G>A	XP_005274663.1:p.Lys829=
XM_005274607.3:c.2211G>A	XP_005274664.1:p.Lys737=
XM_011545591.1:c.2652G>A	XP_011543893.1:p.Lys884=
XM_011545592.1:c.2439G>A	XP_011543894.1:p.Lys813=
XM_011545593.1:c.2652G>A	XP_011543895.1:p.Lys884=
XM_011545594.1:c.2310G>A	XP_011543896.1:p.Lys770=
XM_011545595.1:c.2310G>A	XP_011543897.1:p.Lys770=
XM_011545596.1:c.2510-896G>A	XP_011543898.1:n.2510-896G>A
XM_011545597.1:c.2100G>A	XP_011543899.1:p.Lys700=
XM_011545598.1:c.1356G>A	XP_011543900.1:p.Lys452=
XR_247288.2:n.2960-896G>A
NM_001330209.1:c.2511G>A	NP_001317138.1:p.Lys837=
NM_001330210.1:c.2211G>A	NP_001317139.1:p.Lys737=
XM_005274606.4:c.2487G>A	XP_005274663.1:p.Lys829=
XM_011545592.3:c.2439G>A	XP_011543894.1:p.Lys813=
XM_011545594.3:c.2310G>A	XP_011543896.1:p.Lys770=
XM_011545597.2:c.2100G>A	XP_011543899.1:p.Lys700=
XM_017029909.1:c.2211G>A	XP_016885398.1:p.Lys737=
XM_017029911.1:c.1689G>A	XP_016885400.1:p.Lys563=
XM_024452468.1:c.1356G>A	XP_024308236.1:p.Lys452=
XM_024452469.1:c.1356G>A	XP_024308237.1:p.Lys452=
XM_024452470.1:c.1356G>A	XP_024308238.1:p.Lys452=
XM_024452471.1:c.1245G>A	XP_024308239.1:p.Lys415=
NM_003611.3:c.2631G>A MANE Select	NP_003602.1:p.Lys877=
NM_001330209.2:c.2511G>A	NP_001317138.1:p.Lys837=
NM_001330210.2:c.2211G>A	NP_001317139.1:p.Lys737=