Canonical Allele Identifier: CA392167973

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604395G>T , CM000677.2:g.43604395G>T GRCh38
NC_000015.9:g.43896593G>T , CM000677.1:g.43896593G>T GRCh37
NC_000015.8:g.41683885G>T NCBI36
NG_011636.1:g.19406C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4184C>A (STRC) MANE Select ENSP00000401513.2:p.Thr1395Asn
ENST00000411560.1:n.143-389G>T (CKMT1B)
ENST00000428650.5:c.*1387C>A (STRC) ENSP00000415991.1:n.*1387C>A
ENST00000440125.5:c.*1976C>A (STRC) ENSP00000394866.1:n.*1976C>A
ENST00000448437.6:n.1666-2844C>A (STRC)
ENST00000450892.6:c.4184C>A (STRC) ENSP00000401513.2:p.Thr1395Asn
ENST00000471703.5:n.2138C>A (STRC)
ENST00000485556.5:n.3039C>A (STRC)
ENST00000541030.5:c.1865C>A (STRC) ENSP00000440413.1:p.Thr622Asn
NM_153700.2:c.4184C>A (STRC) MANE Select NP_714544.1:p.Thr1395Asn
XM_011521277.1:c.4673C>A (STRC) XP_011519579.1:p.Thr1558Asn
XM_011521278.1:c.4289C>A (STRC) XP_011519580.1:p.Thr1430Asn
XM_011521279.1:c.4289C>A (STRC) XP_011519581.1:p.Thr1430Asn