Canonical Allele Identifier: CA272353

Gene: OFD1

Linked Data

• ClinVar Variation Id: 159469
• ClinVar RCV Id: RCV000146982
• dbSNP Id: rs587784232
• MyVariant Identifiers: chrX:g.13754716A>C (hg19) ; chrX:g.13736597A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13736597A>C , CM000685.2:g.13736597A>C	GRCh38
NC_000023.10:g.13754716A>C , CM000685.1:g.13754716A>C	GRCh37
NC_000023.9:g.13664637A>C	NCBI36
NG_008872.1:g.6885A>C
NG_011555.1:g.3027T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380567.6:c.231A>C	ENSP00000369941.2:p.Leu77Phe
ENST00000398395.8:c.231A>C	ENSP00000381432.5:p.Leu77Phe
ENST00000464463.6:n.514A>C
ENST00000490265.6:n.151+52A>C
ENST00000682237.1:c.231A>C	ENSP00000507121.1:p.Leu77Phe
ENST00000682562.1:c.231A>C	ENSP00000507874.1:p.Leu77Phe
ENST00000682953.1:c.*294A>C	ENSP00000507878.1:n.*294A>C
ENST00000683055.1:c.231A>C	ENSP00000508191.1:p.Leu77Phe
ENST00000683284.1:c.112-59A>C	ENSP00000507837.1:n.112-59A>C
ENST00000683427.1:c.231A>C	ENSP00000507290.1:p.Leu77Phe
ENST00000683454.1:n.120A>C
ENST00000683655.1:c.231A>C	ENSP00000506770.1:p.Leu77Phe
ENST00000683713.1:c.231A>C	ENSP00000507797.1:p.Leu77Phe
ENST00000684401.1:n.622A>C
ENST00000684577.1:c.231A>C	ENSP00000507871.1:p.Leu77Phe
ENST00000340096.11:c.231A>C MANE Select	ENSP00000344314.6:p.Leu77Phe
ENST00000340096.10:c.231A>C	ENSP00000344314.6:p.Leu77Phe
ENST00000380550.6:c.231A>C	ENSP00000369923.3:p.Leu77Phe
ENST00000380567.5:c.-315A>C	ENSP00000369941.1:n.-315A>C
ENST00000398395.7:c.-304A>C	ENSP00000381432.4:n.-304A>C
ENST00000490265.5:n.542A>C
NM_003611.2:c.231A>C	NP_003602.1:p.Leu77Phe
XM_005274599.2:c.252A>C	XP_005274656.1:p.Leu84Phe
XM_005274602.2:c.252A>C	XP_005274659.1:p.Leu84Phe
XM_005274603.2:c.252A>C	XP_005274660.1:p.Leu84Phe
XM_005274604.2:c.231A>C	XP_005274661.1:p.Leu77Phe
XM_005274606.2:c.87A>C	XP_005274663.1:p.Leu29Phe
XM_011545591.1:c.252A>C	XP_011543893.1:p.Leu84Phe
XM_011545592.1:c.98-59A>C	XP_011543894.1:n.98-59A>C
XM_011545593.1:c.252A>C	XP_011543895.1:p.Leu84Phe
XM_011545594.1:c.-32-59A>C	XP_011543896.1:n.-32-59A>C
XM_011545595.1:c.-32-59A>C	XP_011543897.1:n.-32-59A>C
XM_011545596.1:c.252A>C	XP_011543898.1:p.Leu84Phe
XM_011545597.1:c.-315A>C	XP_011543899.1:n.-315A>C
XR_247288.2:n.591A>C
NM_001330209.1:c.231A>C	NP_001317138.1:p.Leu77Phe
NM_001330210.1:c.-315A>C	NP_001317139.1:n.-315A>C
XM_005274606.4:c.87A>C	XP_005274663.1:p.Leu29Phe
XM_011545592.3:c.98-59A>C	XP_011543894.1:n.98-59A>C
XM_011545594.3:c.-32-59A>C	XP_011543896.1:n.-32-59A>C
XM_011545597.2:c.-315A>C	XP_011543899.1:n.-315A>C
XM_017029909.1:c.-256-59A>C	XP_016885398.1:n.-256-59A>C
XM_024452468.1:c.-1709A>C	XP_024308236.1:n.-1709A>C
XM_024452469.1:c.-1709A>C	XP_024308237.1:n.-1709A>C
XM_024452470.1:c.-1650-59A>C	XP_024308238.1:n.-1650-59A>C
XM_024452471.1:c.-1709A>C	XP_024308239.1:n.-1709A>C
NM_003611.3:c.231A>C MANE Select	NP_003602.1:p.Leu77Phe
NM_001330209.2:c.231A>C	NP_001317138.1:p.Leu77Phe
NM_001330210.2:c.-315A>C	NP_001317139.1:n.-315A>C