Canonical Allele Identifier: CA2628140921

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599813T>C , CM000677.2:g.43599813T>C GRCh38
NC_000015.9:g.43892011T>C , CM000677.1:g.43892011T>C GRCh37
NC_000015.8:g.41679303T>C NCBI36
NG_011636.1:g.23988A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5240-53A>G (STRC) MANE Select ENSP00000401513.2:n.5240-53A>G
ENST00000411560.1:n.142+280T>C (CKMT1B)
ENST00000428650.5:c.*2273-53A>G (STRC) ENSP00000415991.1:n.*2273-53A>G
ENST00000440125.5:c.*3032-53A>G (STRC) ENSP00000394866.1:n.*3032-53A>G
ENST00000448437.6:n.2360-53A>G (STRC)
ENST00000450892.6:c.5240-53A>G (STRC) ENSP00000401513.2:n.5240-53A>G
ENST00000471703.5:n.3194-53A>G (STRC)
ENST00000485556.5:n.4095-53A>G (STRC)
ENST00000541030.5:c.2921-53A>G (STRC) ENSP00000440413.1:n.2921-53A>G
NM_153700.2:c.5240-53A>G (STRC) MANE Select NP_714544.1:n.5240-53A>G
XM_011521277.1:c.5729-53A>G (STRC) XP_011519579.1:n.5729-53A>G
XM_011521278.1:c.5345-53A>G (STRC) XP_011519580.1:n.5345-53A>G
XM_011521279.1:c.5345-53A>G (STRC) XP_011519581.1:n.5345-53A>G