Canonical Allele Identifier: CA2173248188

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600778C= , CM000677.2:g.43600778C= GRCh38
NC_000015.9:g.43892976C= , CM000677.1:g.43892976C= GRCh37
NC_000015.8:g.41680268C= NCBI36
NG_011636.1:g.23023G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4844+94G= (STRC) MANE Select ENSP00000401513.2:n.4844+94G=
ENST00000411560.1:n.142+1245C= (CKMT1B)
ENST00000428650.5:c.*1877+94G= (STRC) ENSP00000415991.1:n.*1877+94G=
ENST00000440125.5:c.*2636+94G= (STRC) ENSP00000394866.1:n.*2636+94G=
ENST00000448437.6:n.1964+94G= (STRC)
ENST00000450892.6:c.4844+94G= (STRC) ENSP00000401513.2:n.4844+94G=
ENST00000460952.1:n.423+94G= (STRC)
ENST00000471703.5:n.2798+94G= (STRC)
ENST00000485556.5:n.3699+94G= (STRC)
ENST00000541030.5:c.2525+94G= (STRC) ENSP00000440413.1:n.2525+94G=
NM_153700.2:c.4844+94G= (STRC) MANE Select NP_714544.1:n.4844+94G=
XM_011521277.1:c.5333+94G= (STRC) XP_011519579.1:n.5333+94G=
XM_011521278.1:c.4949+94G= (STRC) XP_011519580.1:n.4949+94G=
XM_011521279.1:c.4949+94G= (STRC) XP_011519581.1:n.4949+94G=