Canonical Allele Identifier: CA392162229

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600659G>T , CM000677.2:g.43600659G>T GRCh38
NC_000015.9:g.43892857G>T , CM000677.1:g.43892857G>T GRCh37
NC_000015.8:g.41680149G>T NCBI36
NG_011636.1:g.23142C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4868C>A (STRC) MANE Select ENSP00000401513.2:p.Thr1623Asn
ENST00000411560.1:n.142+1126G>T (CKMT1B)
ENST00000428650.5:c.*1901C>A (STRC) ENSP00000415991.1:n.*1901C>A
ENST00000440125.5:c.*2660C>A (STRC) ENSP00000394866.1:n.*2660C>A
ENST00000448437.6:n.1988C>A (STRC)
ENST00000450892.6:c.4868C>A (STRC) ENSP00000401513.2:p.Thr1623Asn
ENST00000460952.1:n.447C>A (STRC)
ENST00000471703.5:n.2822C>A (STRC)
ENST00000485556.5:n.3723C>A (STRC)
ENST00000541030.5:c.2549C>A (STRC) ENSP00000440413.1:p.Thr850Asn
NM_153700.2:c.4868C>A (STRC) MANE Select NP_714544.1:p.Thr1623Asn
XM_011521277.1:c.5357C>A (STRC) XP_011519579.1:p.Thr1786Asn
XM_011521278.1:c.4973C>A (STRC) XP_011519580.1:p.Thr1658Asn
XM_011521279.1:c.4973C>A (STRC) XP_011519581.1:p.Thr1658Asn