Canonical Allele Identifier: CA2173251857

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604312A= , CM000677.2:g.43604312A= GRCh38
NC_000015.9:g.43896510A= , CM000677.1:g.43896510A= GRCh37
NC_000015.8:g.41683802A= NCBI36
NG_011636.1:g.19489T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4218+49T= (STRC) MANE Select ENSP00000401513.2:n.4218+49T=
ENST00000411560.1:n.143-472A= (CKMT1B)
ENST00000428650.5:c.*1421+49T= (STRC) ENSP00000415991.1:n.*1421+49T=
ENST00000440125.5:c.*2010+49T= (STRC) ENSP00000394866.1:n.*2010+49T=
ENST00000448437.6:n.1666-2761T= (STRC)
ENST00000450892.6:c.4218+49T= (STRC) ENSP00000401513.2:n.4218+49T=
ENST00000471703.5:n.2172+49T= (STRC)
ENST00000485556.5:n.3073+49T= (STRC)
ENST00000541030.5:c.1899+49T= (STRC) ENSP00000440413.1:n.1899+49T=
NM_153700.2:c.4218+49T= (STRC) MANE Select NP_714544.1:n.4218+49T=
XM_011521277.1:c.4707+49T= (STRC) XP_011519579.1:n.4707+49T=
XM_011521278.1:c.4323+49T= (STRC) XP_011519580.1:n.4323+49T=
XM_011521279.1:c.4323+49T= (STRC) XP_011519581.1:n.4323+49T=