Canonical Allele Identifier: CA412331291

Gene: OFD1

Linked Data

• ClinVar Variation Id: 2104704
• ClinVar RCV Id: RCV003014749
• MyVariant Identifiers: chrX:g.13753382G>T (hg19) ; chrX:g.13735263G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13735263G>T , CM000685.2:g.13735263G>T	GRCh38
NC_000023.10:g.13753382G>T , CM000685.1:g.13753382G>T	GRCh37
NC_000023.9:g.13663303G>T	NCBI36
NG_008872.1:g.5551G>T
NG_011555.1:g.4361C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.28G>T	ENSP00000369941.2:p.Val10Leu
ENST00000398395.8:c.28G>T	ENSP00000381432.5:p.Val10Leu
ENST00000464463.6:n.311G>T
ENST00000485052.6:n.521G>T
ENST00000682237.1:c.28G>T	ENSP00000507121.1:p.Val10Leu
ENST00000682562.1:c.28G>T	ENSP00000507874.1:p.Val10Leu
ENST00000682953.1:c.28G>T	ENSP00000507878.1:p.Val10Leu
ENST00000683055.1:c.28G>T	ENSP00000508191.1:p.Val10Leu
ENST00000683284.1:c.28G>T	ENSP00000507837.1:p.Val10Leu
ENST00000683427.1:c.28G>T	ENSP00000507290.1:p.Val10Leu
ENST00000683655.1:c.28G>T	ENSP00000506770.1:p.Val10Leu
ENST00000683713.1:c.28G>T	ENSP00000507797.1:p.Val10Leu
ENST00000684577.1:c.28G>T	ENSP00000507871.1:p.Val10Leu
ENST00000340096.11:c.28G>T MANE Select	ENSP00000344314.6:p.Val10Leu
ENST00000340096.10:c.28G>T	ENSP00000344314.6:p.Val10Leu
ENST00000380550.6:c.28G>T	ENSP00000369923.3:p.Val10Leu
ENST00000380567.5:c.-518G>T	ENSP00000369941.1:n.-518G>T
ENST00000398395.7:c.-507G>T	ENSP00000381432.4:n.-507G>T
ENST00000485052.5:n.343G>T
ENST00000490265.5:n.339G>T
NM_003611.2:c.28G>T	NP_003602.1:p.Val10Leu
XM_005274599.2:c.49G>T	XP_005274656.1:p.Val17Leu
XM_005274602.2:c.49G>T	XP_005274659.1:p.Val17Leu
XM_005274603.2:c.49G>T	XP_005274660.1:p.Val17Leu
XM_005274604.2:c.28G>T	XP_005274661.1:p.Val10Leu
XM_005274606.2:c.-306G>T	XP_005274663.1:n.-306G>T
XM_011545591.1:c.49G>T	XP_011543893.1:p.Val17Leu
XM_011545592.1:c.-176G>T	XP_011543894.1:n.-176G>T
XM_011545593.1:c.49G>T	XP_011543895.1:p.Val17Leu
XM_011545594.1:c.-116G>T	XP_011543896.1:n.-116G>T
XM_011545595.1:c.-33+43G>T	XP_011543897.1:n.-33+43G>T
XM_011545596.1:c.49G>T	XP_011543898.1:p.Val17Leu
XM_011545597.1:c.-518G>T	XP_011543899.1:n.-518G>T
XR_247288.2:n.388G>T
NM_001330209.1:c.28G>T	NP_001317138.1:p.Val10Leu
NM_001330210.1:c.-518G>T	NP_001317139.1:n.-518G>T
XM_005274606.4:c.-306G>T	XP_005274663.1:n.-306G>T
XM_011545592.3:c.-176G>T	XP_011543894.1:n.-176G>T
XM_011545597.2:c.-518G>T	XP_011543899.1:n.-518G>T
XM_017029909.1:c.-340G>T	XP_016885398.1:n.-340G>T
XM_024452468.1:c.-1912G>T	XP_024308236.1:n.-1912G>T
XM_024452469.1:c.-2101G>T	XP_024308237.1:n.-2101G>T
XM_024452470.1:c.-1734G>T	XP_024308238.1:n.-1734G>T
XM_024452471.1:c.-1912G>T	XP_024308239.1:n.-1912G>T
NM_003611.3:c.28G>T MANE Select	NP_003602.1:p.Val10Leu
NM_001330209.2:c.28G>T	NP_001317138.1:p.Val10Leu
NM_001330210.2:c.-518G>T	NP_001317139.1:n.-518G>T