Canonical Allele Identifier: CA392167986

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604398A>C , CM000677.2:g.43604398A>C GRCh38
NC_000015.9:g.43896596A>C , CM000677.1:g.43896596A>C GRCh37
NC_000015.8:g.41683888A>C NCBI36
NG_011636.1:g.19403T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4181T>G (STRC) MANE Select ENSP00000401513.2:p.Phe1394Cys
ENST00000411560.1:n.143-386A>C (CKMT1B)
ENST00000428650.5:c.*1384T>G (STRC) ENSP00000415991.1:n.*1384T>G
ENST00000440125.5:c.*1973T>G (STRC) ENSP00000394866.1:n.*1973T>G
ENST00000448437.6:n.1666-2847T>G (STRC)
ENST00000450892.6:c.4181T>G (STRC) ENSP00000401513.2:p.Phe1394Cys
ENST00000471703.5:n.2135T>G (STRC)
ENST00000485556.5:n.3036T>G (STRC)
ENST00000541030.5:c.1862T>G (STRC) ENSP00000440413.1:p.Phe621Cys
NM_153700.2:c.4181T>G (STRC) MANE Select NP_714544.1:p.Phe1394Cys
XM_011521277.1:c.4670T>G (STRC) XP_011519579.1:p.Phe1557Cys
XM_011521278.1:c.4286T>G (STRC) XP_011519580.1:p.Phe1429Cys
XM_011521279.1:c.4286T>G (STRC) XP_011519581.1:p.Phe1429Cys