Canonical Allele Identifier: CA2173248533

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601414A= , CM000677.2:g.43601414A= GRCh38
NC_000015.9:g.43893612A= , CM000677.1:g.43893612A= GRCh37
NC_000015.8:g.41680904A= NCBI36
NG_011636.1:g.22387T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4683T= (STRC) MANE Select ENSP00000401513.2:p.Asp1561=
ENST00000411560.1:n.142+1881A= (CKMT1B)
ENST00000428650.5:c.*1716T= (STRC) ENSP00000415991.1:n.*1716T=
ENST00000440125.5:c.*2475T= (STRC) ENSP00000394866.1:n.*2475T=
ENST00000448437.6:n.1803T= (STRC)
ENST00000450892.6:c.4683T= (STRC) ENSP00000401513.2:p.Asp1561=
ENST00000460952.1:n.262T= (STRC)
ENST00000471703.5:n.2637T= (STRC)
ENST00000485556.5:n.3538T= (STRC)
ENST00000493750.1:n.479T= (STRC)
ENST00000541030.5:c.2364T= (STRC) ENSP00000440413.1:p.Asp788=
NM_153700.2:c.4683T= (STRC) MANE Select NP_714544.1:p.Asp1561=
XM_011521277.1:c.5172T= (STRC) XP_011519579.1:p.Asp1724=
XM_011521278.1:c.4788T= (STRC) XP_011519580.1:p.Asp1596=
XM_011521279.1:c.4788T= (STRC) XP_011519581.1:p.Asp1596=