Canonical Allele Identifier: CA392167925

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604384C>T , CM000677.2:g.43604384C>T GRCh38
NC_000015.9:g.43896582C>T , CM000677.1:g.43896582C>T GRCh37
NC_000015.8:g.41683874C>T NCBI36
NG_011636.1:g.19417G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4195G>A (STRC) MANE Select ENSP00000401513.2:p.Glu1399Lys
ENST00000411560.1:n.143-400C>T (CKMT1B)
ENST00000428650.5:c.*1398G>A (STRC) ENSP00000415991.1:n.*1398G>A
ENST00000440125.5:c.*1987G>A (STRC) ENSP00000394866.1:n.*1987G>A
ENST00000448437.6:n.1666-2833G>A (STRC)
ENST00000450892.6:c.4195G>A (STRC) ENSP00000401513.2:p.Glu1399Lys
ENST00000471703.5:n.2149G>A (STRC)
ENST00000485556.5:n.3050G>A (STRC)
ENST00000541030.5:c.1876G>A (STRC) ENSP00000440413.1:p.Glu626Lys
NM_153700.2:c.4195G>A (STRC) MANE Select NP_714544.1:p.Glu1399Lys
XM_011521277.1:c.4684G>A (STRC) XP_011519579.1:p.Glu1562Lys
XM_011521278.1:c.4300G>A (STRC) XP_011519580.1:p.Glu1434Lys
XM_011521279.1:c.4300G>A (STRC) XP_011519581.1:p.Glu1434Lys