Canonical Allele Identifier: CA2173247807

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599850T= , CM000677.2:g.43599850T= GRCh38
NC_000015.9:g.43892048T= , CM000677.1:g.43892048T= GRCh37
NC_000015.8:g.41679340T= NCBI36
NG_011636.1:g.23951A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5240-90A= (STRC) MANE Select ENSP00000401513.2:n.5240-90A=
ENST00000411560.1:n.142+317T= (CKMT1B)
ENST00000428650.5:c.*2273-90A= (STRC) ENSP00000415991.1:n.*2273-90A=
ENST00000440125.5:c.*3032-90A= (STRC) ENSP00000394866.1:n.*3032-90A=
ENST00000448437.6:n.2360-90A= (STRC)
ENST00000450892.6:c.5240-90A= (STRC) ENSP00000401513.2:n.5240-90A=
ENST00000471703.5:n.3194-90A= (STRC)
ENST00000485556.5:n.4095-90A= (STRC)
ENST00000541030.5:c.2921-90A= (STRC) ENSP00000440413.1:n.2921-90A=
NM_153700.2:c.5240-90A= (STRC) MANE Select NP_714544.1:n.5240-90A=
XM_011521277.1:c.5729-90A= (STRC) XP_011519579.1:n.5729-90A=
XM_011521278.1:c.5345-90A= (STRC) XP_011519580.1:n.5345-90A=
XM_011521279.1:c.5345-90A= (STRC) XP_011519581.1:n.5345-90A=