Canonical Allele Identifier: CA392162169

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600650A>T , CM000677.2:g.43600650A>T GRCh38
NC_000015.9:g.43892848A>T , CM000677.1:g.43892848A>T GRCh37
NC_000015.8:g.41680140A>T NCBI36
NG_011636.1:g.23151T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4877T>A (STRC) MANE Select ENSP00000401513.2:p.Leu1626His
ENST00000411560.1:n.142+1117A>T (CKMT1B)
ENST00000428650.5:c.*1910T>A (STRC) ENSP00000415991.1:n.*1910T>A
ENST00000440125.5:c.*2669T>A (STRC) ENSP00000394866.1:n.*2669T>A
ENST00000448437.6:n.1997T>A (STRC)
ENST00000450892.6:c.4877T>A (STRC) ENSP00000401513.2:p.Leu1626His
ENST00000460952.1:n.456T>A (STRC)
ENST00000471703.5:n.2831T>A (STRC)
ENST00000485556.5:n.3732T>A (STRC)
ENST00000541030.5:c.2558T>A (STRC) ENSP00000440413.1:p.Leu853His
NM_153700.2:c.4877T>A (STRC) MANE Select NP_714544.1:p.Leu1626His
XM_011521277.1:c.5366T>A (STRC) XP_011519579.1:p.Leu1789His
XM_011521278.1:c.4982T>A (STRC) XP_011519580.1:p.Leu1661His
XM_011521279.1:c.4982T>A (STRC) XP_011519581.1:p.Leu1661His