Canonical Allele Identifier: CA392167932

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604387T>C , CM000677.2:g.43604387T>C GRCh38
NC_000015.9:g.43896585T>C , CM000677.1:g.43896585T>C GRCh37
NC_000015.8:g.41683877T>C NCBI36
NG_011636.1:g.19414A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4192A>G (STRC) MANE Select ENSP00000401513.2:p.Thr1398Ala
ENST00000411560.1:n.143-397T>C (CKMT1B)
ENST00000428650.5:c.*1395A>G (STRC) ENSP00000415991.1:n.*1395A>G
ENST00000440125.5:c.*1984A>G (STRC) ENSP00000394866.1:n.*1984A>G
ENST00000448437.6:n.1666-2836A>G (STRC)
ENST00000450892.6:c.4192A>G (STRC) ENSP00000401513.2:p.Thr1398Ala
ENST00000471703.5:n.2146A>G (STRC)
ENST00000485556.5:n.3047A>G (STRC)
ENST00000541030.5:c.1873A>G (STRC) ENSP00000440413.1:p.Thr625Ala
NM_153700.2:c.4192A>G (STRC) MANE Select NP_714544.1:p.Thr1398Ala
XM_011521277.1:c.4681A>G (STRC) XP_011519579.1:p.Thr1561Ala
XM_011521278.1:c.4297A>G (STRC) XP_011519580.1:p.Thr1433Ala
XM_011521279.1:c.4297A>G (STRC) XP_011519581.1:p.Thr1433Ala