Canonical Allele Identifier: CA2173248272

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600937C= , CM000677.2:g.43600937C= GRCh38
NC_000015.9:g.43893135C= , CM000677.1:g.43893135C= GRCh37
NC_000015.8:g.41680427C= NCBI36
NG_011636.1:g.22864G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4779G= (STRC) MANE Select ENSP00000401513.2:p.Ala1593=
ENST00000411560.1:n.142+1404C= (CKMT1B)
ENST00000428650.5:c.*1812G= (STRC) ENSP00000415991.1:n.*1812G=
ENST00000440125.5:c.*2571G= (STRC) ENSP00000394866.1:n.*2571G=
ENST00000448437.6:n.1899G= (STRC)
ENST00000450892.6:c.4779G= (STRC) ENSP00000401513.2:p.Ala1593=
ENST00000460952.1:n.358G= (STRC)
ENST00000471703.5:n.2733G= (STRC)
ENST00000485556.5:n.3634G= (STRC)
ENST00000541030.5:c.2460G= (STRC) ENSP00000440413.1:p.Ala820=
NM_153700.2:c.4779G= (STRC) MANE Select NP_714544.1:p.Ala1593=
XM_011521277.1:c.5268G= (STRC) XP_011519579.1:p.Ala1756=
XM_011521278.1:c.4884G= (STRC) XP_011519580.1:p.Ala1628=
XM_011521279.1:c.4884G= (STRC) XP_011519581.1:p.Ala1628=