Canonical Allele Identifier: CA2173251858

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604314C= , CM000677.2:g.43604314C= GRCh38
NC_000015.9:g.43896512C= , CM000677.1:g.43896512C= GRCh37
NC_000015.8:g.41683804C= NCBI36
NG_011636.1:g.19487G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4218+47G= (STRC) MANE Select ENSP00000401513.2:n.4218+47G=
ENST00000411560.1:n.143-470C= (CKMT1B)
ENST00000428650.5:c.*1421+47G= (STRC) ENSP00000415991.1:n.*1421+47G=
ENST00000440125.5:c.*2010+47G= (STRC) ENSP00000394866.1:n.*2010+47G=
ENST00000448437.6:n.1666-2763G= (STRC)
ENST00000450892.6:c.4218+47G= (STRC) ENSP00000401513.2:n.4218+47G=
ENST00000471703.5:n.2172+47G= (STRC)
ENST00000485556.5:n.3073+47G= (STRC)
ENST00000541030.5:c.1899+47G= (STRC) ENSP00000440413.1:n.1899+47G=
NM_153700.2:c.4218+47G= (STRC) MANE Select NP_714544.1:n.4218+47G=
XM_011521277.1:c.4707+47G= (STRC) XP_011519579.1:n.4707+47G=
XM_011521278.1:c.4323+47G= (STRC) XP_011519580.1:n.4323+47G=
XM_011521279.1:c.4323+47G= (STRC) XP_011519581.1:n.4323+47G=