Canonical Allele Identifier: CA2173248284

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600963G= , CM000677.2:g.43600963G= GRCh38
NC_000015.9:g.43893161G= , CM000677.1:g.43893161G= GRCh37
NC_000015.8:g.41680453G= NCBI36
NG_011636.1:g.22838C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4753C= (STRC) MANE Select ENSP00000401513.2:p.His1585=
ENST00000411560.1:n.142+1430G= (CKMT1B)
ENST00000428650.5:c.*1786C= (STRC) ENSP00000415991.1:n.*1786C=
ENST00000440125.5:c.*2545C= (STRC) ENSP00000394866.1:n.*2545C=
ENST00000448437.6:n.1873C= (STRC)
ENST00000450892.6:c.4753C= (STRC) ENSP00000401513.2:p.His1585=
ENST00000460952.1:n.332C= (STRC)
ENST00000471703.5:n.2707C= (STRC)
ENST00000485556.5:n.3608C= (STRC)
ENST00000541030.5:c.2434C= (STRC) ENSP00000440413.1:p.His812=
NM_153700.2:c.4753C= (STRC) MANE Select NP_714544.1:p.His1585=
XM_011521277.1:c.5242C= (STRC) XP_011519579.1:p.His1748=
XM_011521278.1:c.4858C= (STRC) XP_011519580.1:p.His1620=
XM_011521279.1:c.4858C= (STRC) XP_011519581.1:p.His1620=