Canonical Allele Identifier: CA392157575

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599716A>G , CM000677.2:g.43599716A>G GRCh38
NC_000015.9:g.43891914A>G , CM000677.1:g.43891914A>G GRCh37
NC_000015.8:g.41679206A>G NCBI36
NG_011636.1:g.24085T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5284T>C (STRC) MANE Select ENSP00000401513.2:p.Trp1762Arg
ENST00000411560.1:n.142+183A>G (CKMT1B)
ENST00000428650.5:c.*2317T>C (STRC) ENSP00000415991.1:n.*2317T>C
ENST00000440125.5:c.*3076T>C (STRC) ENSP00000394866.1:n.*3076T>C
ENST00000448437.6:n.2404T>C (STRC)
ENST00000450892.6:c.5284T>C (STRC) ENSP00000401513.2:p.Trp1762Arg
ENST00000471703.5:n.3238T>C (STRC)
ENST00000485556.5:n.4139T>C (STRC)
ENST00000541030.5:c.2965T>C (STRC) ENSP00000440413.1:p.Trp989Arg
NM_153700.2:c.5284T>C (STRC) MANE Select NP_714544.1:p.Trp1762Arg
XM_011521277.1:c.5773T>C (STRC) XP_011519579.1:p.Trp1925Arg
XM_011521278.1:c.5389T>C (STRC) XP_011519580.1:p.Trp1797Arg
XM_011521279.1:c.5389T>C (STRC) XP_011519581.1:p.Trp1797Arg