Canonical Allele Identifier: CA2628140837

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599671C>T , CM000677.2:g.43599671C>T GRCh38
NC_000015.9:g.43891869C>T , CM000677.1:g.43891869C>T GRCh37
NC_000015.8:g.41679161C>T NCBI36
NG_011636.1:g.24130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.*1G>A (STRC) MANE Select ENSP00000401513.2:n.*1G>A
ENST00000411560.1:n.142+138C>T (CKMT1B)
ENST00000428650.5:c.*2362G>A (STRC) ENSP00000415991.1:n.*2362G>A
ENST00000440125.5:c.*3121G>A (STRC) ENSP00000394866.1:n.*3121G>A
ENST00000448437.6:n.2449G>A (STRC)
ENST00000450892.6:c.*1G>A (STRC) ENSP00000401513.2:n.*1G>A
ENST00000471703.5:n.3283G>A (STRC)
ENST00000485556.5:n.4184G>A (STRC)
ENST00000541030.5:c.*1G>A (STRC) ENSP00000440413.1:n.*1G>A
NM_153700.2:c.*1G>A (STRC) MANE Select NP_714544.1:n.*1G>A
XM_011521277.1:c.*1G>A (STRC) XP_011519579.1:n.*1G>A
XM_011521278.1:c.*1G>A (STRC) XP_011519580.1:n.*1G>A
XM_011521279.1:c.*1G>A (STRC) XP_011519581.1:n.*1G>A