Canonical Allele Identifier: CA2173247749

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599623T= , CM000677.2:g.43599623T= GRCh38
NC_000015.9:g.43891821T= , CM000677.1:g.43891821T= GRCh37
NC_000015.8:g.41679113T= NCBI36
NG_011636.1:g.24178A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.*49A= (STRC) MANE Select ENSP00000401513.2:n.*49A=
ENST00000411560.1:n.142+90T= (CKMT1B)
ENST00000448437.6:n.2497A= (STRC)
ENST00000450892.6:c.*49A= (STRC) ENSP00000401513.2:n.*49A=
ENST00000471703.5:n.3331A= (STRC)
ENST00000485556.5:n.4232A= (STRC)
ENST00000541030.5:c.*49A= (STRC) ENSP00000440413.1:n.*49A=
NM_153700.2:c.*49A= (STRC) MANE Select NP_714544.1:n.*49A=
XM_011521277.1:c.*49A= (STRC) XP_011519579.1:n.*49A=
XM_011521278.1:c.*49A= (STRC) XP_011519580.1:n.*49A=
XM_011521279.1:c.*49A= (STRC) XP_011519581.1:n.*49A=