Canonical Allele Identifier: CA2173251851

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604304A= , CM000677.2:g.43604304A= GRCh38
NC_000015.9:g.43896502A= , CM000677.1:g.43896502A= GRCh37
NC_000015.8:g.41683794A= NCBI36
NG_011636.1:g.19497T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4218+57T= (STRC) MANE Select ENSP00000401513.2:n.4218+57T=
ENST00000411560.1:n.143-480A= (CKMT1B)
ENST00000428650.5:c.*1421+57T= (STRC) ENSP00000415991.1:n.*1421+57T=
ENST00000440125.5:c.*2010+57T= (STRC) ENSP00000394866.1:n.*2010+57T=
ENST00000448437.6:n.1666-2753T= (STRC)
ENST00000450892.6:c.4218+57T= (STRC) ENSP00000401513.2:n.4218+57T=
ENST00000471703.5:n.2172+57T= (STRC)
ENST00000485556.5:n.3073+57T= (STRC)
ENST00000541030.5:c.1899+57T= (STRC) ENSP00000440413.1:n.1899+57T=
NM_153700.2:c.4218+57T= (STRC) MANE Select NP_714544.1:n.4218+57T=
XM_011521277.1:c.4707+57T= (STRC) XP_011519579.1:n.4707+57T=
XM_011521278.1:c.4323+57T= (STRC) XP_011519580.1:n.4323+57T=
XM_011521279.1:c.4323+57T= (STRC) XP_011519581.1:n.4323+57T=