Canonical Allele Identifier: CA2173248125

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600654G= , CM000677.2:g.43600654G= GRCh38
NC_000015.9:g.43892852G= , CM000677.1:g.43892852G= GRCh37
NC_000015.8:g.41680144G= NCBI36
NG_011636.1:g.23147C=

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4873C= (STRC) MANE Select ENSP00000401513.2:p.His1625=
ENST00000411560.1:n.142+1121G= (CKMT1B)
ENST00000428650.5:c.*1906C= (STRC) ENSP00000415991.1:n.*1906C=
ENST00000440125.5:c.*2665C= (STRC) ENSP00000394866.1:n.*2665C=
ENST00000448437.6:n.1993C= (STRC)
ENST00000450892.6:c.4873C= (STRC) ENSP00000401513.2:p.His1625=
ENST00000460952.1:n.452C= (STRC)
ENST00000471703.5:n.2827C= (STRC)
ENST00000485556.5:n.3728C= (STRC)
ENST00000541030.5:c.2554C= (STRC) ENSP00000440413.1:p.His852=
NM_153700.2:c.4873C= (STRC) MANE Select NP_714544.1:p.His1625=
XM_011521277.1:c.5362C= (STRC) XP_011519579.1:p.His1788=
XM_011521278.1:c.4978C= (STRC) XP_011519580.1:p.His1660=
XM_011521279.1:c.4978C= (STRC) XP_011519581.1:p.His1660=