Canonical Allele Identifier: CA392167800

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604361C>G , CM000677.2:g.43604361C>G GRCh38
NC_000015.9:g.43896559C>G , CM000677.1:g.43896559C>G GRCh37
NC_000015.8:g.41683851C>G NCBI36
NG_011636.1:g.19440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4218G>C (STRC) MANE Select ENSP00000401513.2:p.Arg1406Ser
ENST00000411560.1:n.143-423C>G (CKMT1B)
ENST00000428650.5:c.*1421G>C (STRC) ENSP00000415991.1:n.*1421G>C
ENST00000440125.5:c.*2010G>C (STRC) ENSP00000394866.1:n.*2010G>C
ENST00000448437.6:n.1666-2810G>C (STRC)
ENST00000450892.6:c.4218G>C (STRC) ENSP00000401513.2:p.Arg1406Ser
ENST00000471703.5:n.2172G>C (STRC)
ENST00000485556.5:n.3073G>C (STRC)
ENST00000541030.5:c.1899G>C (STRC) ENSP00000440413.1:p.Arg633Ser
NM_153700.2:c.4218G>C (STRC) MANE Select NP_714544.1:p.Arg1406Ser
XM_011521277.1:c.4707G>C (STRC) XP_011519579.1:p.Arg1569Ser
XM_011521278.1:c.4323G>C (STRC) XP_011519580.1:p.Arg1441Ser
XM_011521279.1:c.4323G>C (STRC) XP_011519581.1:p.Arg1441Ser