Canonical Allele Identifier: CA712990147

Linked Data

dbSNP Id: rs1241404484

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600761G>A , CM000677.2:g.43600761G>A GRCh38
NC_000015.9:g.43892959G>A , CM000677.1:g.43892959G>A GRCh37
NC_000015.8:g.41680251G>A NCBI36
NG_011636.1:g.23040C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4845-79C>T (STRC) MANE Select ENSP00000401513.2:n.4845-79C>T
ENST00000411560.1:n.142+1228G>A (CKMT1B)
ENST00000428650.5:c.*1878-79C>T (STRC) ENSP00000415991.1:n.*1878-79C>T
ENST00000440125.5:c.*2637-79C>T (STRC) ENSP00000394866.1:n.*2637-79C>T
ENST00000448437.6:n.1965-79C>T (STRC)
ENST00000450892.6:c.4845-79C>T (STRC) ENSP00000401513.2:n.4845-79C>T
ENST00000460952.1:n.424-79C>T (STRC)
ENST00000471703.5:n.2799-79C>T (STRC)
ENST00000485556.5:n.3700-79C>T (STRC)
ENST00000541030.5:c.2526-79C>T (STRC) ENSP00000440413.1:n.2526-79C>T
NM_153700.2:c.4845-79C>T (STRC) MANE Select NP_714544.1:n.4845-79C>T
XM_011521277.1:c.5334-79C>T (STRC) XP_011519579.1:n.5334-79C>T
XM_011521278.1:c.4950-79C>T (STRC) XP_011519580.1:n.4950-79C>T
XM_011521279.1:c.4950-79C>T (STRC) XP_011519581.1:n.4950-79C>T