Canonical Allele Identifier: CA392157972

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599973G>T , CM000677.2:g.43599973G>T GRCh38
NC_000015.9:g.43892171G>T , CM000677.1:g.43892171G>T GRCh37
NC_000015.8:g.41679463G>T NCBI36
NG_011636.1:g.23828C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5226C>A (STRC) MANE Select ENSP00000401513.2:p.Ser1742Arg
ENST00000411560.1:n.142+440G>T (CKMT1B)
ENST00000428650.5:c.*2259C>A (STRC) ENSP00000415991.1:n.*2259C>A
ENST00000440125.5:c.*3018C>A (STRC) ENSP00000394866.1:n.*3018C>A
ENST00000448437.6:n.2346C>A (STRC)
ENST00000450892.6:c.5226C>A (STRC) ENSP00000401513.2:p.Ser1742Arg
ENST00000471703.5:n.3180C>A (STRC)
ENST00000485556.5:n.4081C>A (STRC)
ENST00000541030.5:c.2907C>A (STRC) ENSP00000440413.1:p.Ser969Arg
NM_153700.2:c.5226C>A (STRC) MANE Select NP_714544.1:p.Ser1742Arg
XM_011521277.1:c.5715C>A (STRC) XP_011519579.1:p.Ser1905Arg
XM_011521278.1:c.5331C>A (STRC) XP_011519580.1:p.Ser1777Arg
XM_011521279.1:c.5331C>A (STRC) XP_011519581.1:p.Ser1777Arg