Canonical Allele Identifier: CA2173248492

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601350G= , CM000677.2:g.43601350G= GRCh38
NC_000015.9:g.43893548G= , CM000677.1:g.43893548G= GRCh37
NC_000015.8:g.41680840G= NCBI36
NG_011636.1:g.22451C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4701+46C= (STRC) MANE Select ENSP00000401513.2:n.4701+46C=
ENST00000411560.1:n.142+1817G= (CKMT1B)
ENST00000428650.5:c.*1734+46C= (STRC) ENSP00000415991.1:n.*1734+46C=
ENST00000440125.5:c.*2493+46C= (STRC) ENSP00000394866.1:n.*2493+46C=
ENST00000448437.6:n.1821+46C= (STRC)
ENST00000450892.6:c.4701+46C= (STRC) ENSP00000401513.2:n.4701+46C=
ENST00000460952.1:n.280+46C= (STRC)
ENST00000471703.5:n.2655+46C= (STRC)
ENST00000485556.5:n.3556+46C= (STRC)
ENST00000493750.1:n.497+46C= (STRC)
ENST00000541030.5:c.2382+46C= (STRC) ENSP00000440413.1:n.2382+46C=
NM_153700.2:c.4701+46C= (STRC) MANE Select NP_714544.1:n.4701+46C=
XM_011521277.1:c.5190+46C= (STRC) XP_011519579.1:n.5190+46C=
XM_011521278.1:c.4806+46C= (STRC) XP_011519580.1:n.4806+46C=
XM_011521279.1:c.4806+46C= (STRC) XP_011519581.1:n.4806+46C=