Canonical Allele Identifier: CA392160575

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600617G>C , CM000677.2:g.43600617G>C GRCh38
NC_000015.9:g.43892815G>C , CM000677.1:g.43892815G>C GRCh37
NC_000015.8:g.41680107G>C NCBI36
NG_011636.1:g.23184C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4910C>G (STRC) MANE Select ENSP00000401513.2:p.Ala1637Gly
ENST00000411560.1:n.142+1084G>C (CKMT1B)
ENST00000428650.5:c.*1943C>G (STRC) ENSP00000415991.1:n.*1943C>G
ENST00000440125.5:c.*2702C>G (STRC) ENSP00000394866.1:n.*2702C>G
ENST00000448437.6:n.2030C>G (STRC)
ENST00000450892.6:c.4910C>G (STRC) ENSP00000401513.2:p.Ala1637Gly
ENST00000460952.1:n.489C>G (STRC)
ENST00000471703.5:n.2864C>G (STRC)
ENST00000485556.5:n.3765C>G (STRC)
ENST00000541030.5:c.2591C>G (STRC) ENSP00000440413.1:p.Ala864Gly
NM_153700.2:c.4910C>G (STRC) MANE Select NP_714544.1:p.Ala1637Gly
XM_011521277.1:c.5399C>G (STRC) XP_011519579.1:p.Ala1800Gly
XM_011521278.1:c.5015C>G (STRC) XP_011519580.1:p.Ala1672Gly
XM_011521279.1:c.5015C>G (STRC) XP_011519581.1:p.Ala1672Gly