Canonical Allele Identifier: CA2628142223

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601385A>C , CM000677.2:g.43601385A>C GRCh38
NC_000015.9:g.43893583A>C , CM000677.1:g.43893583A>C GRCh37
NC_000015.8:g.41680875A>C NCBI36
NG_011636.1:g.22416T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4701+11T>G (STRC) MANE Select ENSP00000401513.2:n.4701+11T>G
ENST00000411560.1:n.142+1852A>C (CKMT1B)
ENST00000428650.5:c.*1734+11T>G (STRC) ENSP00000415991.1:n.*1734+11T>G
ENST00000440125.5:c.*2493+11T>G (STRC) ENSP00000394866.1:n.*2493+11T>G
ENST00000448437.6:n.1821+11T>G (STRC)
ENST00000450892.6:c.4701+11T>G (STRC) ENSP00000401513.2:n.4701+11T>G
ENST00000460952.1:n.280+11T>G (STRC)
ENST00000471703.5:n.2655+11T>G (STRC)
ENST00000485556.5:n.3556+11T>G (STRC)
ENST00000493750.1:n.497+11T>G (STRC)
ENST00000541030.5:c.2382+11T>G (STRC) ENSP00000440413.1:n.2382+11T>G
NM_153700.2:c.4701+11T>G (STRC) MANE Select NP_714544.1:n.4701+11T>G
XM_011521277.1:c.5190+11T>G (STRC) XP_011519579.1:n.5190+11T>G
XM_011521278.1:c.4806+11T>G (STRC) XP_011519580.1:n.4806+11T>G
XM_011521279.1:c.4806+11T>G (STRC) XP_011519581.1:n.4806+11T>G