Canonical Allele Identifier: CA2173248130

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600663C= , CM000677.2:g.43600663C= GRCh38
NC_000015.9:g.43892861C= , CM000677.1:g.43892861C= GRCh37
NC_000015.8:g.41680153C= NCBI36
NG_011636.1:g.23138G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4864G= (STRC) MANE Select ENSP00000401513.2:p.Gly1622=
ENST00000411560.1:n.142+1130C= (CKMT1B)
ENST00000428650.5:c.*1897G= (STRC) ENSP00000415991.1:n.*1897G=
ENST00000440125.5:c.*2656G= (STRC) ENSP00000394866.1:n.*2656G=
ENST00000448437.6:n.1984G= (STRC)
ENST00000450892.6:c.4864G= (STRC) ENSP00000401513.2:p.Gly1622=
ENST00000460952.1:n.443G= (STRC)
ENST00000471703.5:n.2818G= (STRC)
ENST00000485556.5:n.3719G= (STRC)
ENST00000541030.5:c.2545G= (STRC) ENSP00000440413.1:p.Gly849=
NM_153700.2:c.4864G= (STRC) MANE Select NP_714544.1:p.Gly1622=
XM_011521277.1:c.5353G= (STRC) XP_011519579.1:p.Gly1785=
XM_011521278.1:c.4969G= (STRC) XP_011519580.1:p.Gly1657=
XM_011521279.1:c.4969G= (STRC) XP_011519581.1:p.Gly1657=