Canonical Allele Identifier: CA392163838

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601479C>G , CM000677.2:g.43601479C>G GRCh38
NC_000015.9:g.43893677C>G , CM000677.1:g.43893677C>G GRCh37
NC_000015.8:g.41680969C>G NCBI36
NG_011636.1:g.22322G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4618G>C (STRC) MANE Select ENSP00000401513.2:p.Asp1540His
ENST00000411560.1:n.142+1946C>G (CKMT1B)
ENST00000428650.5:c.*1651G>C (STRC) ENSP00000415991.1:n.*1651G>C
ENST00000440125.5:c.*2410G>C (STRC) ENSP00000394866.1:n.*2410G>C
ENST00000448437.6:n.1738G>C (STRC)
ENST00000450892.6:c.4618G>C (STRC) ENSP00000401513.2:p.Asp1540His
ENST00000460952.1:n.197G>C (STRC)
ENST00000471703.5:n.2572G>C (STRC)
ENST00000485556.5:n.3473G>C (STRC)
ENST00000493750.1:n.414G>C (STRC)
ENST00000541030.5:c.2299G>C (STRC) ENSP00000440413.1:p.Asp767His
NM_153700.2:c.4618G>C (STRC) MANE Select NP_714544.1:p.Asp1540His
XM_011521277.1:c.5107G>C (STRC) XP_011519579.1:p.Asp1703His
XM_011521278.1:c.4723G>C (STRC) XP_011519580.1:p.Asp1575His
XM_011521279.1:c.4723G>C (STRC) XP_011519581.1:p.Asp1575His