Canonical Allele Identifier: CA392163070

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600977C>T , CM000677.2:g.43600977C>T GRCh38
NC_000015.9:g.43893175C>T , CM000677.1:g.43893175C>T GRCh37
NC_000015.8:g.41680467C>T NCBI36
NG_011636.1:g.22824G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4739G>A (STRC) MANE Select ENSP00000401513.2:p.Gly1580Asp
ENST00000411560.1:n.142+1444C>T (CKMT1B)
ENST00000428650.5:c.*1772G>A (STRC) ENSP00000415991.1:n.*1772G>A
ENST00000440125.5:c.*2531G>A (STRC) ENSP00000394866.1:n.*2531G>A
ENST00000448437.6:n.1859G>A (STRC)
ENST00000450892.6:c.4739G>A (STRC) ENSP00000401513.2:p.Gly1580Asp
ENST00000460952.1:n.318G>A (STRC)
ENST00000471703.5:n.2693G>A (STRC)
ENST00000485556.5:n.3594G>A (STRC)
ENST00000541030.5:c.2420G>A (STRC) ENSP00000440413.1:p.Gly807Asp
NM_153700.2:c.4739G>A (STRC) MANE Select NP_714544.1:p.Gly1580Asp
XM_011521277.1:c.5228G>A (STRC) XP_011519579.1:p.Gly1743Asp
XM_011521278.1:c.4844G>A (STRC) XP_011519580.1:p.Gly1615Asp
XM_011521279.1:c.4844G>A (STRC) XP_011519581.1:p.Gly1615Asp