Canonical Allele Identifier: CA326119655

Gene: OFD1

Linked Data

• dbSNP Id: rs142659184
• gnomAD v2: X-13776533-C-A
• gnomAD v4: X-13758414-C-A
• MyVariant Identifiers: chrX:g.13776533C>A (hg19) ; chrX:g.13758414C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758414C>A , CM000685.2:g.13758414C>A	GRCh38
NC_000023.10:g.13776533C>A , CM000685.1:g.13776533C>A	GRCh37
NC_000023.9:g.13686454C>A	NCBI36
NG_008872.1:g.28702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1313C>A	ENSP00000369941.2:n.*1313C>A
ENST00000398395.8:c.*1115+624C>A	ENSP00000381432.5:n.*1115+624C>A
ENST00000464463.6:n.1783C>A
ENST00000490265.6:n.2149C>A
ENST00000682237.1:c.*1180C>A	ENSP00000507121.1:n.*1180C>A
ENST00000682562.1:c.*3022C>A	ENSP00000507874.1:n.*3022C>A
ENST00000682953.1:c.*2347C>A	ENSP00000507878.1:n.*2347C>A
ENST00000683055.1:c.*935C>A	ENSP00000508191.1:n.*935C>A
ENST00000683284.1:c.*1851C>A	ENSP00000507837.1:n.*1851C>A
ENST00000683427.1:c.*311+624C>A	ENSP00000507290.1:n.*311+624C>A
ENST00000683454.1:n.1634C>A
ENST00000683637.1:n.2729C>A
ENST00000683655.1:c.*1834C>A	ENSP00000506770.1:n.*1834C>A
ENST00000683713.1:c.*1851C>A	ENSP00000507797.1:n.*1851C>A
ENST00000684577.1:c.*1317C>A	ENSP00000507871.1:n.*1317C>A
ENST00000340096.11:c.1620C>A MANE Select	ENSP00000344314.6:p.Ala540=
ENST00000340096.10:c.1620C>A	ENSP00000344314.6:p.Ala540=
ENST00000380550.6:c.1500C>A	ENSP00000369923.3:p.Ala500=
ENST00000380567.5:c.1200C>A	ENSP00000369941.1:p.Ala400=
ENST00000398395.7:c.1011+624C>A	ENSP00000381432.4:n.1011+624C>A
ENST00000490265.5:n.2595C>A
NM_003611.2:c.1620C>A	NP_003602.1:p.Ala540=
XM_005274599.2:c.1641C>A	XP_005274656.1:p.Ala547=
XM_005274602.2:c.1641C>A	XP_005274659.1:p.Ala547=
XM_005274603.2:c.1521C>A	XP_005274660.1:p.Ala507=
XM_005274604.2:c.1500C>A	XP_005274661.1:p.Ala500=
XM_005274606.2:c.1476C>A	XP_005274663.1:p.Ala492=
XM_005274607.3:c.1200C>A	XP_005274664.1:p.Ala400=
XM_011545591.1:c.1641C>A	XP_011543893.1:p.Ala547=
XM_011545592.1:c.1428C>A	XP_011543894.1:p.Ala476=
XM_011545593.1:c.1641C>A	XP_011543895.1:p.Ala547=
XM_011545594.1:c.1299C>A	XP_011543896.1:p.Ala433=
XM_011545595.1:c.1299C>A	XP_011543897.1:p.Ala433=
XM_011545596.1:c.1641C>A	XP_011543898.1:p.Ala547=
XM_011545597.1:c.1200C>A	XP_011543899.1:p.Ala400=
XM_011545598.1:c.345C>A	XP_011543900.1:p.Ala115=
XR_247288.2:n.1980C>A
NM_001330209.1:c.1500C>A	NP_001317138.1:p.Ala500=
NM_001330210.1:c.1200C>A	NP_001317139.1:p.Ala400=
XM_005274606.4:c.1476C>A	XP_005274663.1:p.Ala492=
XM_011545592.3:c.1428C>A	XP_011543894.1:p.Ala476=
XM_011545594.3:c.1299C>A	XP_011543896.1:p.Ala433=
XM_011545597.2:c.1200C>A	XP_011543899.1:p.Ala400=
XM_017029909.1:c.1200C>A	XP_016885398.1:p.Ala400=
XM_017029911.1:c.678C>A	XP_016885400.1:p.Ala226=
XM_024452468.1:c.345C>A	XP_024308236.1:p.Ala115=
XM_024452469.1:c.345C>A	XP_024308237.1:p.Ala115=
XM_024452470.1:c.345C>A	XP_024308238.1:p.Ala115=
XM_024452471.1:c.345C>A	XP_024308239.1:p.Ala115=
NM_003611.3:c.1620C>A MANE Select	NP_003602.1:p.Ala540=
NM_001330209.2:c.1500C>A	NP_001317138.1:p.Ala500=
NM_001330210.2:c.1200C>A	NP_001317139.1:p.Ala400=