Canonical Allele Identifier: CA392157990

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599975T>G , CM000677.2:g.43599975T>G GRCh38
NC_000015.9:g.43892173T>G , CM000677.1:g.43892173T>G GRCh37
NC_000015.8:g.41679465T>G NCBI36
NG_011636.1:g.23826A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5224A>C (STRC) MANE Select ENSP00000401513.2:p.Ser1742Arg
ENST00000411560.1:n.142+442T>G (CKMT1B)
ENST00000428650.5:c.*2257A>C (STRC) ENSP00000415991.1:n.*2257A>C
ENST00000440125.5:c.*3016A>C (STRC) ENSP00000394866.1:n.*3016A>C
ENST00000448437.6:n.2344A>C (STRC)
ENST00000450892.6:c.5224A>C (STRC) ENSP00000401513.2:p.Ser1742Arg
ENST00000471703.5:n.3178A>C (STRC)
ENST00000485556.5:n.4079A>C (STRC)
ENST00000541030.5:c.2905A>C (STRC) ENSP00000440413.1:p.Ser969Arg
NM_153700.2:c.5224A>C (STRC) MANE Select NP_714544.1:p.Ser1742Arg
XM_011521277.1:c.5713A>C (STRC) XP_011519579.1:p.Ser1905Arg
XM_011521278.1:c.5329A>C (STRC) XP_011519580.1:p.Ser1777Arg
XM_011521279.1:c.5329A>C (STRC) XP_011519581.1:p.Ser1777Arg