Canonical Allele Identifier: CA2173248246

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600879C= , CM000677.2:g.43600879C= GRCh38
NC_000015.9:g.43893077C= , CM000677.1:g.43893077C= GRCh37
NC_000015.8:g.41680369C= NCBI36
NG_011636.1:g.22922G=

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4837G= (STRC) MANE Select ENSP00000401513.2:p.Glu1613=
ENST00000411560.1:n.142+1346C= (CKMT1B)
ENST00000428650.5:c.*1870G= (STRC) ENSP00000415991.1:n.*1870G=
ENST00000440125.5:c.*2629G= (STRC) ENSP00000394866.1:n.*2629G=
ENST00000448437.6:n.1957G= (STRC)
ENST00000450892.6:c.4837G= (STRC) ENSP00000401513.2:p.Glu1613=
ENST00000460952.1:n.416G= (STRC)
ENST00000471703.5:n.2791G= (STRC)
ENST00000485556.5:n.3692G= (STRC)
ENST00000541030.5:c.2518G= (STRC) ENSP00000440413.1:p.Glu840=
NM_153700.2:c.4837G= (STRC) MANE Select NP_714544.1:p.Glu1613=
XM_011521277.1:c.5326G= (STRC) XP_011519579.1:p.Glu1776=
XM_011521278.1:c.4942G= (STRC) XP_011519580.1:p.Glu1648=
XM_011521279.1:c.4942G= (STRC) XP_011519581.1:p.Glu1648=