Canonical Allele Identifier: CA392163565

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601431T>A , CM000677.2:g.43601431T>A GRCh38
NC_000015.9:g.43893629T>A , CM000677.1:g.43893629T>A GRCh37
NC_000015.8:g.41680921T>A NCBI36
NG_011636.1:g.22370A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4666A>T (STRC) MANE Select ENSP00000401513.2:p.Thr1556Ser
ENST00000411560.1:n.142+1898T>A (CKMT1B)
ENST00000428650.5:c.*1699A>T (STRC) ENSP00000415991.1:n.*1699A>T
ENST00000440125.5:c.*2458A>T (STRC) ENSP00000394866.1:n.*2458A>T
ENST00000448437.6:n.1786A>T (STRC)
ENST00000450892.6:c.4666A>T (STRC) ENSP00000401513.2:p.Thr1556Ser
ENST00000460952.1:n.245A>T (STRC)
ENST00000471703.5:n.2620A>T (STRC)
ENST00000485556.5:n.3521A>T (STRC)
ENST00000493750.1:n.462A>T (STRC)
ENST00000541030.5:c.2347A>T (STRC) ENSP00000440413.1:p.Thr783Ser
NM_153700.2:c.4666A>T (STRC) MANE Select NP_714544.1:p.Thr1556Ser
XM_011521277.1:c.5155A>T (STRC) XP_011519579.1:p.Thr1719Ser
XM_011521278.1:c.4771A>T (STRC) XP_011519580.1:p.Thr1591Ser
XM_011521279.1:c.4771A>T (STRC) XP_011519581.1:p.Thr1591Ser