Canonical Allele Identifier: CA2173247781

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599757C= , CM000677.2:g.43599757C= GRCh38
NC_000015.9:g.43891955C= , CM000677.1:g.43891955C= GRCh37
NC_000015.8:g.41679247C= NCBI36
NG_011636.1:g.24044G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5243G= (STRC) MANE Select ENSP00000401513.2:p.Arg1748=
ENST00000411560.1:n.142+224C= (CKMT1B)
ENST00000428650.5:c.*2276G= (STRC) ENSP00000415991.1:n.*2276G=
ENST00000440125.5:c.*3035G= (STRC) ENSP00000394866.1:n.*3035G=
ENST00000448437.6:n.2363G= (STRC)
ENST00000450892.6:c.5243G= (STRC) ENSP00000401513.2:p.Arg1748=
ENST00000471703.5:n.3197G= (STRC)
ENST00000485556.5:n.4098G= (STRC)
ENST00000541030.5:c.2924G= (STRC) ENSP00000440413.1:p.Arg975=
NM_153700.2:c.5243G= (STRC) MANE Select NP_714544.1:p.Arg1748=
XM_011521277.1:c.5732G= (STRC) XP_011519579.1:p.Arg1911=
XM_011521278.1:c.5348G= (STRC) XP_011519580.1:p.Arg1783=
XM_011521279.1:c.5348G= (STRC) XP_011519581.1:p.Arg1783=