Canonical Allele Identifier: CA392157773

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599748G>C , CM000677.2:g.43599748G>C GRCh38
NC_000015.9:g.43891946G>C , CM000677.1:g.43891946G>C GRCh37
NC_000015.8:g.41679238G>C NCBI36
NG_011636.1:g.24053C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5252C>G (STRC) MANE Select ENSP00000401513.2:p.Ala1751Gly
ENST00000411560.1:n.142+215G>C (CKMT1B)
ENST00000428650.5:c.*2285C>G (STRC) ENSP00000415991.1:n.*2285C>G
ENST00000440125.5:c.*3044C>G (STRC) ENSP00000394866.1:n.*3044C>G
ENST00000448437.6:n.2372C>G (STRC)
ENST00000450892.6:c.5252C>G (STRC) ENSP00000401513.2:p.Ala1751Gly
ENST00000471703.5:n.3206C>G (STRC)
ENST00000485556.5:n.4107C>G (STRC)
ENST00000541030.5:c.2933C>G (STRC) ENSP00000440413.1:p.Ala978Gly
NM_153700.2:c.5252C>G (STRC) MANE Select NP_714544.1:p.Ala1751Gly
XM_011521277.1:c.5741C>G (STRC) XP_011519579.1:p.Ala1914Gly
XM_011521278.1:c.5357C>G (STRC) XP_011519580.1:p.Ala1786Gly
XM_011521279.1:c.5357C>G (STRC) XP_011519581.1:p.Ala1786Gly