Canonical Allele Identifier: CA346403132
Community Standard Title: NM_015662.3(IFT172):c.148A>T (p.Arg50Ter)
Gene: IFT172 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27485395T>A , CM000664.2:g.27485395T>A GRCh38
NC_000002.11:g.27708262T>A , CM000664.1:g.27708262T>A GRCh37
NC_000002.10:g.27561766T>A NCBI36
NG_034068.1:g.9417A>T

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.148A>T MANE Select NP_056477.1:p.Arg50Ter
ENST00000260570.8:c.148A>T MANE Select ENSP00000260570.3:p.Arg50Ter
NM_015662.2:c.148A>T NP_056477.1:p.Arg50Ter
ENST00000260570.7:c.148A>T ENSP00000260570.3:p.Arg50Ter
ENST00000359466.10:c.148A>T ENSP00000352443.6:p.Arg50Ter
ENST00000416524.2:c.85A>T ENSP00000407408.2:p.Arg29Ter
ENST00000475476.2:n.249A>T
ENST00000476264.6:n.228A>T
ENST00000476264.7:n.238A>T
ENST00000507184.5:n.280A>T
ENST00000511842.5:n.173A>T
ENST00000674701.1:c.148A>T ENSP00000502275.1:p.Arg50Ter
ENST00000674824.1:c.85A>T ENSP00000501824.1:p.Arg29Ter
ENST00000674932.1:c.148A>T ENSP00000501967.1:p.Arg50Ter
ENST00000675410.1:c.-385-1129A>T ENSP00000502030.1:n.-385-1129A>T
ENST00000675618.1:n.228A>T
ENST00000675690.1:c.148A>T ENSP00000502283.1:p.Arg50Ter
ENST00000675728.1:c.85A>T ENSP00000501700.1:p.Arg29Ter
ENST00000675729.1:c.148A>T ENSP00000502319.1:p.Arg50Ter
ENST00000675757.1:n.33A>T
ENST00000675925.1:n.300A>T
ENST00000675963.1:c.148A>T ENSP00000502708.1:p.Arg50Ter
ENST00000676119.1:c.148A>T ENSP00000501701.1:p.Arg50Ter
ENST00000676300.1:n.234A>T
XM_005264254.1:c.148A>T XP_005264311.1:p.Arg50Ter
XM_006711986.2:c.85A>T XP_006712049.1:p.Arg29Ter
XM_006711986.3:c.85A>T XP_006712049.1:p.Arg29Ter
XM_006711987.1:c.148A>T XP_006712050.1:p.Arg50Ter
XM_011532757.2:c.-733A>T XP_011531059.1:n.-733A>T
XM_011532758.1:c.148A>T XP_011531060.1:p.Arg50Ter
XM_017003790.1:c.85A>T XP_016859279.1:p.Arg29Ter
XM_017003791.1:c.-494A>T XP_016859280.1:n.-494A>T
XM_017003792.1:c.148A>T XP_016859281.1:p.Arg50Ter
XM_017003793.1:c.-1263A>T XP_016859282.1:n.-1263A>T
XM_017003795.1:c.-1874A>T XP_016859284.1:n.-1874A>T
XR_001738698.1:n.203A>T