Canonical Allele Identifier: CA412344239
Community Standard Title: NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13760432A>T , CM000685.2:g.13760432A>T GRCh38
NC_000023.10:g.13778551A>T , CM000685.1:g.13778551A>T GRCh37
NC_000023.9:g.13688472A>T NCBI36
NG_008872.1:g.30720A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.1972A>T MANE Select NP_003602.1:p.Lys658Ter
ENST00000340096.11:c.1972A>T MANE Select ENSP00000344314.6:p.Lys658Ter
NM_001330209.1:c.1852A>T NP_001317138.1:p.Lys618Ter
NM_001330209.2:c.1852A>T NP_001317138.1:p.Lys618Ter
NM_001330210.1:c.1552A>T NP_001317139.1:p.Lys518Ter
NM_001330210.2:c.1552A>T NP_001317139.1:p.Lys518Ter
NM_003611.2:c.1972A>T NP_003602.1:p.Lys658Ter
ENST00000340096.10:c.1972A>T ENSP00000344314.6:p.Lys658Ter
ENST00000380550.6:c.1852A>T ENSP00000369923.3:p.Lys618Ter
ENST00000380567.5:c.1552A>T ENSP00000369941.1:p.Lys518Ter
ENST00000380567.6:c.*1665A>T ENSP00000369941.2:n.*1665A>T
ENST00000398395.7:c.*312A>T ENSP00000381432.4:n.*312A>T
ENST00000398395.8:c.*1433A>T ENSP00000381432.5:n.*1433A>T
ENST00000464463.6:n.3801A>T
ENST00000490265.5:n.2947A>T
ENST00000490265.6:n.2501A>T
ENST00000682237.1:c.*1532A>T ENSP00000507121.1:n.*1532A>T
ENST00000682562.1:c.*3374A>T ENSP00000507874.1:n.*3374A>T
ENST00000682953.1:c.*2699A>T ENSP00000507878.1:n.*2699A>T
ENST00000683055.1:c.*2953A>T ENSP00000508191.1:n.*2953A>T
ENST00000683284.1:c.*2203A>T ENSP00000507837.1:n.*2203A>T
ENST00000683427.1:c.*629A>T ENSP00000507290.1:n.*629A>T
ENST00000683454.1:n.1986A>T
ENST00000683637.1:n.3081A>T
ENST00000683655.1:c.*2186A>T ENSP00000506770.1:n.*2186A>T
ENST00000683713.1:c.*2203A>T ENSP00000507797.1:n.*2203A>T
ENST00000684577.1:c.*1669A>T ENSP00000507871.1:n.*1669A>T
XM_005274599.2:c.1993A>T XP_005274656.1:p.Lys665Ter
XM_005274602.2:c.1993A>T XP_005274659.1:p.Lys665Ter
XM_005274603.2:c.1873A>T XP_005274660.1:p.Lys625Ter
XM_005274604.2:c.1852A>T XP_005274661.1:p.Lys618Ter
XM_005274606.2:c.1828A>T XP_005274663.1:p.Lys610Ter
XM_005274606.4:c.1828A>T XP_005274663.1:p.Lys610Ter
XM_005274607.3:c.1552A>T XP_005274664.1:p.Lys518Ter
XM_011545591.1:c.1993A>T XP_011543893.1:p.Lys665Ter
XM_011545592.1:c.1780A>T XP_011543894.1:p.Lys594Ter
XM_011545592.3:c.1780A>T XP_011543894.1:p.Lys594Ter
XM_011545593.1:c.1993A>T XP_011543895.1:p.Lys665Ter
XM_011545594.1:c.1651A>T XP_011543896.1:p.Lys551Ter
XM_011545594.3:c.1651A>T XP_011543896.1:p.Lys551Ter
XM_011545595.1:c.1651A>T XP_011543897.1:p.Lys551Ter
XM_011545596.1:c.1993A>T XP_011543898.1:p.Lys665Ter
XM_011545597.1:c.1552A>T XP_011543899.1:p.Lys518Ter
XM_011545597.2:c.1552A>T XP_011543899.1:p.Lys518Ter
XM_011545598.1:c.697A>T XP_011543900.1:p.Lys233Ter
XM_017029909.1:c.1552A>T XP_016885398.1:p.Lys518Ter
XM_017029911.1:c.1030A>T XP_016885400.1:p.Lys344Ter
XM_024452468.1:c.697A>T XP_024308236.1:p.Lys233Ter
XM_024452469.1:c.697A>T XP_024308237.1:p.Lys233Ter
XM_024452470.1:c.697A>T XP_024308238.1:p.Lys233Ter
XM_024452471.1:c.697A>T XP_024308239.1:p.Lys233Ter
XR_247288.2:n.2332A>T