Canonical Allele Identifier: CA2173248507

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601366G= , CM000677.2:g.43601366G= GRCh38
NC_000015.9:g.43893564G= , CM000677.1:g.43893564G= GRCh37
NC_000015.8:g.41680856G= NCBI36
NG_011636.1:g.22435C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4701+30C= (STRC) MANE Select ENSP00000401513.2:n.4701+30C=
ENST00000411560.1:n.142+1833G= (CKMT1B)
ENST00000428650.5:c.*1734+30C= (STRC) ENSP00000415991.1:n.*1734+30C=
ENST00000440125.5:c.*2493+30C= (STRC) ENSP00000394866.1:n.*2493+30C=
ENST00000448437.6:n.1821+30C= (STRC)
ENST00000450892.6:c.4701+30C= (STRC) ENSP00000401513.2:n.4701+30C=
ENST00000460952.1:n.280+30C= (STRC)
ENST00000471703.5:n.2655+30C= (STRC)
ENST00000485556.5:n.3556+30C= (STRC)
ENST00000493750.1:n.497+30C= (STRC)
ENST00000541030.5:c.2382+30C= (STRC) ENSP00000440413.1:n.2382+30C=
NM_153700.2:c.4701+30C= (STRC) MANE Select NP_714544.1:n.4701+30C=
XM_011521277.1:c.5190+30C= (STRC) XP_011519579.1:n.5190+30C=
XM_011521278.1:c.4806+30C= (STRC) XP_011519580.1:n.4806+30C=
XM_011521279.1:c.4806+30C= (STRC) XP_011519581.1:n.4806+30C=