Canonical Allele Identifier: CA392160309

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600585G>T , CM000677.2:g.43600585G>T GRCh38
NC_000015.9:g.43892783G>T , CM000677.1:g.43892783G>T GRCh37
NC_000015.8:g.41680075G>T NCBI36
NG_011636.1:g.23216C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4942C>A (STRC) MANE Select ENSP00000401513.2:p.Pro1648Thr
ENST00000411560.1:n.142+1052G>T (CKMT1B)
ENST00000428650.5:c.*1975C>A (STRC) ENSP00000415991.1:n.*1975C>A
ENST00000440125.5:c.*2734C>A (STRC) ENSP00000394866.1:n.*2734C>A
ENST00000448437.6:n.2062C>A (STRC)
ENST00000450892.6:c.4942C>A (STRC) ENSP00000401513.2:p.Pro1648Thr
ENST00000460952.1:n.521C>A (STRC)
ENST00000471703.5:n.2896C>A (STRC)
ENST00000485556.5:n.3797C>A (STRC)
ENST00000541030.5:c.2623C>A (STRC) ENSP00000440413.1:p.Pro875Thr
NM_153700.2:c.4942C>A (STRC) MANE Select NP_714544.1:p.Pro1648Thr
XM_011521277.1:c.5431C>A (STRC) XP_011519579.1:p.Pro1811Thr
XM_011521278.1:c.5047C>A (STRC) XP_011519580.1:p.Pro1683Thr
XM_011521279.1:c.5047C>A (STRC) XP_011519581.1:p.Pro1683Thr