Canonical Allele Identifier: CA392168774

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604727A>T , CM000677.2:g.43604727A>T GRCh38
NC_000015.9:g.43896925A>T , CM000677.1:g.43896925A>T GRCh37
NC_000015.8:g.41684217A>T NCBI36
NG_011636.1:g.19074T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4050T>A (STRC) MANE Select ENSP00000401513.2:p.Ser1350Arg
ENST00000411560.1:n.143-57A>T (CKMT1B)
ENST00000428650.5:c.*1253T>A (STRC) ENSP00000415991.1:n.*1253T>A
ENST00000440125.5:c.*1842T>A (STRC) ENSP00000394866.1:n.*1842T>A
ENST00000448437.6:n.1665+3136T>A (STRC)
ENST00000450892.6:c.4050T>A (STRC) ENSP00000401513.2:p.Ser1350Arg
ENST00000455136.5:c.1081T>A (STRC)
ENST00000471703.5:n.2004T>A (STRC)
ENST00000485556.5:n.2905T>A (STRC)
ENST00000541030.5:c.1731T>A (STRC) ENSP00000440413.1:p.Ser577Arg
NM_153700.2:c.4050T>A (STRC) MANE Select NP_714544.1:p.Ser1350Arg
XM_011521277.1:c.4539T>A (STRC) XP_011519579.1:p.Ser1513Arg
XM_011521278.1:c.4155T>A (STRC) XP_011519580.1:p.Ser1385Arg
XM_011521279.1:c.4155T>A (STRC) XP_011519581.1:p.Ser1385Arg