Canonical Allele Identifier: CA392160347

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600587C>T , CM000677.2:g.43600587C>T GRCh38
NC_000015.9:g.43892785C>T , CM000677.1:g.43892785C>T GRCh37
NC_000015.8:g.41680077C>T NCBI36
NG_011636.1:g.23214G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4940G>A (STRC) MANE Select ENSP00000401513.2:p.Gly1647Asp
ENST00000411560.1:n.142+1054C>T (CKMT1B)
ENST00000428650.5:c.*1973G>A (STRC) ENSP00000415991.1:n.*1973G>A
ENST00000440125.5:c.*2732G>A (STRC) ENSP00000394866.1:n.*2732G>A
ENST00000448437.6:n.2060G>A (STRC)
ENST00000450892.6:c.4940G>A (STRC) ENSP00000401513.2:p.Gly1647Asp
ENST00000460952.1:n.519G>A (STRC)
ENST00000471703.5:n.2894G>A (STRC)
ENST00000485556.5:n.3795G>A (STRC)
ENST00000541030.5:c.2621G>A (STRC) ENSP00000440413.1:p.Gly874Asp
NM_153700.2:c.4940G>A (STRC) MANE Select NP_714544.1:p.Gly1647Asp
XM_011521277.1:c.5429G>A (STRC) XP_011519579.1:p.Gly1810Asp
XM_011521278.1:c.5045G>A (STRC) XP_011519580.1:p.Gly1682Asp
XM_011521279.1:c.5045G>A (STRC) XP_011519581.1:p.Gly1682Asp