Canonical Allele Identifier: CA392163155

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600992A>C , CM000677.2:g.43600992A>C GRCh38
NC_000015.9:g.43893190A>C , CM000677.1:g.43893190A>C GRCh37
NC_000015.8:g.41680482A>C NCBI36
NG_011636.1:g.22809T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4724T>G (STRC) MANE Select ENSP00000401513.2:p.Phe1575Cys
ENST00000411560.1:n.142+1459A>C (CKMT1B)
ENST00000428650.5:c.*1757T>G (STRC) ENSP00000415991.1:n.*1757T>G
ENST00000440125.5:c.*2516T>G (STRC) ENSP00000394866.1:n.*2516T>G
ENST00000448437.6:n.1844T>G (STRC)
ENST00000450892.6:c.4724T>G (STRC) ENSP00000401513.2:p.Phe1575Cys
ENST00000460952.1:n.303T>G (STRC)
ENST00000471703.5:n.2678T>G (STRC)
ENST00000485556.5:n.3579T>G (STRC)
ENST00000541030.5:c.2405T>G (STRC) ENSP00000440413.1:p.Phe802Cys
NM_153700.2:c.4724T>G (STRC) MANE Select NP_714544.1:p.Phe1575Cys
XM_011521277.1:c.5213T>G (STRC) XP_011519579.1:p.Phe1738Cys
XM_011521278.1:c.4829T>G (STRC) XP_011519580.1:p.Phe1610Cys
XM_011521279.1:c.4829T>G (STRC) XP_011519581.1:p.Phe1610Cys