Canonical Allele Identifier: CA412331425
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2120438
ClinVar RCV Id: RCV003059380
dbSNP Id: rs2046814710
gnomAD v3: X-13735278-A-G
gnomAD v4: X-13735278-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13735278A>G , CM000685.2:g.13735278A>G GRCh38
NC_000023.10:g.13753397A>G , CM000685.1:g.13753397A>G GRCh37
NC_000023.9:g.13663318A>G NCBI36
NG_008872.1:g.5566A>G
NG_011555.1:g.4346T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380567.6:c.43A>G ENSP00000369941.2:p.Ser15Gly
ENST00000398395.8:c.43A>G ENSP00000381432.5:p.Ser15Gly
ENST00000464463.6:n.326A>G
ENST00000485052.6:n.536A>G
ENST00000490265.6:n.15A>G
ENST00000682237.1:c.43A>G ENSP00000507121.1:p.Ser15Gly
ENST00000682562.1:c.43A>G ENSP00000507874.1:p.Ser15Gly
ENST00000682953.1:c.43A>G ENSP00000507878.1:p.Ser15Gly
ENST00000683055.1:c.43A>G ENSP00000508191.1:p.Ser15Gly
ENST00000683284.1:c.43A>G ENSP00000507837.1:p.Ser15Gly
ENST00000683427.1:c.43A>G ENSP00000507290.1:p.Ser15Gly
ENST00000683655.1:c.43A>G ENSP00000506770.1:p.Ser15Gly
ENST00000683713.1:c.43A>G ENSP00000507797.1:p.Ser15Gly
ENST00000684577.1:c.43A>G ENSP00000507871.1:p.Ser15Gly
ENST00000340096.11:c.43A>G MANE Select ENSP00000344314.6:p.Ser15Gly
ENST00000340096.10:c.43A>G ENSP00000344314.6:p.Ser15Gly
ENST00000380550.6:c.43A>G ENSP00000369923.3:p.Ser15Gly
ENST00000380567.5:c.-503A>G ENSP00000369941.1:n.-503A>G
ENST00000398395.7:c.-492A>G ENSP00000381432.4:n.-492A>G
ENST00000485052.5:n.358A>G
ENST00000490265.5:n.354A>G
NM_003611.2:c.43A>G NP_003602.1:p.Ser15Gly
XM_005274599.2:c.64A>G XP_005274656.1:p.Ser22Gly
XM_005274602.2:c.64A>G XP_005274659.1:p.Ser22Gly
XM_005274603.2:c.64A>G XP_005274660.1:p.Ser22Gly
XM_005274604.2:c.43A>G XP_005274661.1:p.Ser15Gly
XM_005274606.2:c.-291A>G XP_005274663.1:n.-291A>G
XM_011545591.1:c.64A>G XP_011543893.1:p.Ser22Gly
XM_011545592.1:c.-161A>G XP_011543894.1:n.-161A>G
XM_011545593.1:c.64A>G XP_011543895.1:p.Ser22Gly
XM_011545594.1:c.-101A>G XP_011543896.1:n.-101A>G
XM_011545595.1:c.-33+58A>G XP_011543897.1:n.-33+58A>G
XM_011545596.1:c.64A>G XP_011543898.1:p.Ser22Gly
XM_011545597.1:c.-503A>G XP_011543899.1:n.-503A>G
XR_247288.2:n.403A>G
NM_001330209.1:c.43A>G NP_001317138.1:p.Ser15Gly
NM_001330210.1:c.-503A>G NP_001317139.1:n.-503A>G
XM_005274606.4:c.-291A>G XP_005274663.1:n.-291A>G
XM_011545592.3:c.-161A>G XP_011543894.1:n.-161A>G
XM_011545597.2:c.-503A>G XP_011543899.1:n.-503A>G
XM_017029909.1:c.-325A>G XP_016885398.1:n.-325A>G
XM_024452468.1:c.-1897A>G XP_024308236.1:n.-1897A>G
XM_024452469.1:c.-2086A>G XP_024308237.1:n.-2086A>G
XM_024452470.1:c.-1719A>G XP_024308238.1:n.-1719A>G
XM_024452471.1:c.-1897A>G XP_024308239.1:n.-1897A>G
NM_003611.3:c.43A>G MANE Select NP_003602.1:p.Ser15Gly
NM_001330209.2:c.43A>G NP_001317138.1:p.Ser15Gly
NM_001330210.2:c.-503A>G NP_001317139.1:n.-503A>G