Canonical Allele Identifier: CA10351619
Community Standard Title: NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13744496C>T , CM000685.2:g.13744496C>T GRCh38
NC_000023.10:g.13762615C>T , CM000685.1:g.13762615C>T GRCh37
NC_000023.9:g.13672536C>T NCBI36
NG_008872.1:g.14784C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.494C>T MANE Select NP_003602.1:p.Ser165Leu
ENST00000340096.11:c.494C>T MANE Select ENSP00000344314.6:p.Ser165Leu
NM_001330209.1:c.494C>T NP_001317138.1:p.Ser165Leu
NM_001330209.2:c.494C>T NP_001317138.1:p.Ser165Leu
NM_001330210.1:c.74C>T NP_001317139.1:p.Ser25Leu
NM_001330210.2:c.74C>T NP_001317139.1:p.Ser25Leu
NM_003611.2:c.494C>T NP_003602.1:p.Ser165Leu
ENST00000340096.10:c.494C>T ENSP00000344314.6:p.Ser165Leu
ENST00000380550.6:c.494C>T ENSP00000369923.3:p.Ser165Leu
ENST00000380567.5:c.74C>T ENSP00000369941.1:p.Ser25Leu
ENST00000380567.6:c.*187C>T ENSP00000369941.2:n.*187C>T
ENST00000398395.7:c.83C>T ENSP00000381432.4:p.Ser28Leu
ENST00000398395.8:c.*187C>T ENSP00000381432.5:n.*187C>T
ENST00000464463.6:n.777C>T
ENST00000490265.5:n.805C>T
ENST00000490265.6:n.356C>T
ENST00000682237.1:c.494C>T ENSP00000507121.1:p.Ser165Leu
ENST00000682562.1:c.*187C>T ENSP00000507874.1:n.*187C>T
ENST00000682953.1:c.*557C>T ENSP00000507878.1:n.*557C>T
ENST00000683055.1:c.413-1823C>T ENSP00000508191.1:n.413-1823C>T
ENST00000683284.1:c.*61C>T ENSP00000507837.1:n.*61C>T
ENST00000683427.1:c.494C>T ENSP00000507290.1:p.Ser165Leu
ENST00000683454.1:n.508C>T
ENST00000683637.1:n.939C>T
ENST00000683655.1:c.494C>T ENSP00000506770.1:p.Ser165Leu
ENST00000683713.1:c.*61C>T ENSP00000507797.1:n.*61C>T
ENST00000684577.1:c.*187C>T ENSP00000507871.1:n.*187C>T
XM_005274599.2:c.515C>T XP_005274656.1:p.Ser172Leu
XM_005274602.2:c.515C>T XP_005274659.1:p.Ser172Leu
XM_005274603.2:c.515C>T XP_005274660.1:p.Ser172Leu
XM_005274604.2:c.494C>T XP_005274661.1:p.Ser165Leu
XM_005274606.2:c.350C>T XP_005274663.1:p.Ser117Leu
XM_005274606.4:c.350C>T XP_005274663.1:p.Ser117Leu
XM_005274607.3:c.74C>T XP_005274664.1:p.Ser25Leu
XM_011545591.1:c.515C>T XP_011543893.1:p.Ser172Leu
XM_011545592.1:c.302C>T XP_011543894.1:p.Ser101Leu
XM_011545592.3:c.302C>T XP_011543894.1:p.Ser101Leu
XM_011545593.1:c.515C>T XP_011543895.1:p.Ser172Leu
XM_011545594.1:c.173C>T XP_011543896.1:p.Ser58Leu
XM_011545594.3:c.173C>T XP_011543896.1:p.Ser58Leu
XM_011545595.1:c.173C>T XP_011543897.1:p.Ser58Leu
XM_011545596.1:c.515C>T XP_011543898.1:p.Ser172Leu
XM_011545597.1:c.74C>T XP_011543899.1:p.Ser25Leu
XM_011545597.2:c.74C>T XP_011543899.1:p.Ser25Leu
XM_017029909.1:c.74C>T XP_016885398.1:p.Ser25Leu
XM_024452468.1:c.-1446C>T XP_024308236.1:n.-1446C>T
XM_024452469.1:c.-1446C>T XP_024308237.1:n.-1446C>T
XM_024452470.1:c.-1446C>T XP_024308238.1:n.-1446C>T
XM_024452471.1:c.-1446C>T XP_024308239.1:n.-1446C>T
XR_247288.2:n.854C>T