Canonical Allele Identifier: CA2575704371

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601612G>C , CM000677.2:g.43601612G>C GRCh38
NC_000015.9:g.43893810G>C , CM000677.1:g.43893810G>C GRCh37
NC_000015.8:g.41681102G>C NCBI36
NG_011636.1:g.22189C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4546-61C>G (STRC) MANE Select ENSP00000401513.2:n.4546-61C>G
ENST00000411560.1:n.142+2079G>C (CKMT1B)
ENST00000428650.5:c.*1579-61C>G (STRC) ENSP00000415991.1:n.*1579-61C>G
ENST00000440125.5:c.*2338-61C>G (STRC) ENSP00000394866.1:n.*2338-61C>G
ENST00000448437.6:n.1666-61C>G (STRC)
ENST00000450892.6:c.4546-61C>G (STRC) ENSP00000401513.2:n.4546-61C>G
ENST00000460952.1:n.64C>G (STRC)
ENST00000471703.5:n.2500-61C>G (STRC)
ENST00000485556.5:n.3401-61C>G (STRC)
ENST00000493750.1:n.342-61C>G (STRC)
ENST00000541030.5:c.2227-61C>G (STRC) ENSP00000440413.1:n.2227-61C>G
NM_153700.2:c.4546-61C>G (STRC) MANE Select NP_714544.1:n.4546-61C>G
XM_011521277.1:c.5035-61C>G (STRC) XP_011519579.1:n.5035-61C>G
XM_011521278.1:c.4651-61C>G (STRC) XP_011519580.1:n.4651-61C>G
XM_011521279.1:c.4651-61C>G (STRC) XP_011519581.1:n.4651-61C>G