Canonical Allele Identifier: CA326105700

Gene: OFD1

Linked Data

• dbSNP Id: rs759719121
• gnomAD v2: X-13753314-A-G
• gnomAD v3: X-13735195-A-G
• gnomAD v4: X-13735195-A-G
• MyVariant Identifiers: chrX:g.13753314A>G (hg19) ; chrX:g.13735195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13735195A>G , CM000685.2:g.13735195A>G	GRCh38
NC_000023.10:g.13753314A>G , CM000685.1:g.13753314A>G	GRCh37
NC_000023.9:g.13663235A>G	NCBI36
NG_008872.1:g.5483A>G
NG_011555.1:g.4429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.13-53A>G	ENSP00000369941.2:n.13-53A>G
ENST00000398395.8:c.13-53A>G	ENSP00000381432.5:n.13-53A>G
ENST00000464463.6:n.296-53A>G
ENST00000485052.6:n.453A>G
ENST00000682237.1:c.13-53A>G	ENSP00000507121.1:n.13-53A>G
ENST00000682562.1:c.13-53A>G	ENSP00000507874.1:n.13-53A>G
ENST00000682953.1:c.13-53A>G	ENSP00000507878.1:n.13-53A>G
ENST00000683055.1:c.13-53A>G	ENSP00000508191.1:n.13-53A>G
ENST00000683284.1:c.13-53A>G	ENSP00000507837.1:n.13-53A>G
ENST00000683427.1:c.13-53A>G	ENSP00000507290.1:n.13-53A>G
ENST00000683655.1:c.13-53A>G	ENSP00000506770.1:n.13-53A>G
ENST00000683713.1:c.13-53A>G	ENSP00000507797.1:n.13-53A>G
ENST00000684577.1:c.13-53A>G	ENSP00000507871.1:n.13-53A>G
ENST00000340096.11:c.13-53A>G MANE Select	ENSP00000344314.6:n.13-53A>G
ENST00000340096.10:c.13-53A>G	ENSP00000344314.6:n.13-53A>G
ENST00000380550.6:c.13-53A>G	ENSP00000369923.3:n.13-53A>G
ENST00000380567.5:c.-533-53A>G	ENSP00000369941.1:n.-533-53A>G
ENST00000398395.7:c.-522-53A>G	ENSP00000381432.4:n.-522-53A>G
ENST00000485052.5:n.328-53A>G
ENST00000490265.5:n.324-53A>G
NM_003611.2:c.13-53A>G	NP_003602.1:n.13-53A>G
XM_005274599.2:c.34-53A>G	XP_005274656.1:n.34-53A>G
XM_005274602.2:c.34-53A>G	XP_005274659.1:n.34-53A>G
XM_005274603.2:c.34-53A>G	XP_005274660.1:n.34-53A>G
XM_005274604.2:c.13-53A>G	XP_005274661.1:n.13-53A>G
XM_005274606.2:c.-321-53A>G	XP_005274663.1:n.-321-53A>G
XM_011545591.1:c.34-53A>G	XP_011543893.1:n.34-53A>G
XM_011545592.1:c.-191-53A>G	XP_011543894.1:n.-191-53A>G
XM_011545593.1:c.34-53A>G	XP_011543895.1:n.34-53A>G
XM_011545595.1:c.-58A>G	XP_011543897.1:n.-58A>G
XM_011545596.1:c.34-53A>G	XP_011543898.1:n.34-53A>G
XM_011545597.1:c.-533-53A>G	XP_011543899.1:n.-533-53A>G
XR_247288.2:n.373-53A>G
NM_001330209.1:c.13-53A>G	NP_001317138.1:n.13-53A>G
NM_001330210.1:c.-533-53A>G	NP_001317139.1:n.-533-53A>G
XM_005274606.4:c.-321-53A>G	XP_005274663.1:n.-321-53A>G
XM_011545592.3:c.-191-53A>G	XP_011543894.1:n.-191-53A>G
XM_011545597.2:c.-533-53A>G	XP_011543899.1:n.-533-53A>G
XM_024452468.1:c.-1927-53A>G	XP_024308236.1:n.-1927-53A>G
XM_024452469.1:c.-2116-53A>G	XP_024308237.1:n.-2116-53A>G
XM_024452470.1:c.-1749-53A>G	XP_024308238.1:n.-1749-53A>G
XM_024452471.1:c.-1927-53A>G	XP_024308239.1:n.-1927-53A>G
NM_003611.3:c.13-53A>G MANE Select	NP_003602.1:n.13-53A>G
NM_001330209.2:c.13-53A>G	NP_001317138.1:n.13-53A>G
NM_001330210.2:c.-533-53A>G	NP_001317139.1:n.-533-53A>G