Canonical Allele Identifier: CA2628141017

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599912A>G , CM000677.2:g.43599912A>G GRCh38
NC_000015.9:g.43892110A>G , CM000677.1:g.43892110A>G GRCh37
NC_000015.8:g.41679402A>G NCBI36
NG_011636.1:g.23889T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5239+48T>C (STRC) MANE Select ENSP00000401513.2:n.5239+48T>C
ENST00000411560.1:n.142+379A>G (CKMT1B)
ENST00000428650.5:c.*2272+48T>C (STRC) ENSP00000415991.1:n.*2272+48T>C
ENST00000440125.5:c.*3031+48T>C (STRC) ENSP00000394866.1:n.*3031+48T>C
ENST00000448437.6:n.2359+48T>C (STRC)
ENST00000450892.6:c.5239+48T>C (STRC) ENSP00000401513.2:n.5239+48T>C
ENST00000471703.5:n.3193+48T>C (STRC)
ENST00000485556.5:n.4094+48T>C (STRC)
ENST00000541030.5:c.2920+48T>C (STRC) ENSP00000440413.1:n.2920+48T>C
NM_153700.2:c.5239+48T>C (STRC) MANE Select NP_714544.1:n.5239+48T>C
XM_011521277.1:c.5728+48T>C (STRC) XP_011519579.1:n.5728+48T>C
XM_011521278.1:c.5344+48T>C (STRC) XP_011519580.1:n.5344+48T>C
XM_011521279.1:c.5344+48T>C (STRC) XP_011519581.1:n.5344+48T>C