Canonical Allele Identifier: CA2173247802

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599831C= , CM000677.2:g.43599831C= GRCh38
NC_000015.9:g.43892029C= , CM000677.1:g.43892029C= GRCh37
NC_000015.8:g.41679321C= NCBI36
NG_011636.1:g.23970G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5240-71G= (STRC) MANE Select ENSP00000401513.2:n.5240-71G=
ENST00000411560.1:n.142+298C= (CKMT1B)
ENST00000428650.5:c.*2273-71G= (STRC) ENSP00000415991.1:n.*2273-71G=
ENST00000440125.5:c.*3032-71G= (STRC) ENSP00000394866.1:n.*3032-71G=
ENST00000448437.6:n.2360-71G= (STRC)
ENST00000450892.6:c.5240-71G= (STRC) ENSP00000401513.2:n.5240-71G=
ENST00000471703.5:n.3194-71G= (STRC)
ENST00000485556.5:n.4095-71G= (STRC)
ENST00000541030.5:c.2921-71G= (STRC) ENSP00000440413.1:n.2921-71G=
NM_153700.2:c.5240-71G= (STRC) MANE Select NP_714544.1:n.5240-71G=
XM_011521277.1:c.5729-71G= (STRC) XP_011519579.1:n.5729-71G=
XM_011521278.1:c.5345-71G= (STRC) XP_011519580.1:n.5345-71G=
XM_011521279.1:c.5345-71G= (STRC) XP_011519581.1:n.5345-71G=