Canonical Allele Identifier: CA392160258

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600576T>C , CM000677.2:g.43600576T>C GRCh38
NC_000015.9:g.43892774T>C , CM000677.1:g.43892774T>C GRCh37
NC_000015.8:g.41680066T>C NCBI36
NG_011636.1:g.23225A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4951A>G (STRC) MANE Select ENSP00000401513.2:p.Asn1651Asp
ENST00000411560.1:n.142+1043T>C (CKMT1B)
ENST00000428650.5:c.*1984A>G (STRC) ENSP00000415991.1:n.*1984A>G
ENST00000440125.5:c.*2743A>G (STRC) ENSP00000394866.1:n.*2743A>G
ENST00000448437.6:n.2071A>G (STRC)
ENST00000450892.6:c.4951A>G (STRC) ENSP00000401513.2:p.Asn1651Asp
ENST00000460952.1:n.530A>G (STRC)
ENST00000471703.5:n.2905A>G (STRC)
ENST00000485556.5:n.3806A>G (STRC)
ENST00000541030.5:c.2632A>G (STRC) ENSP00000440413.1:p.Asn878Asp
NM_153700.2:c.4951A>G (STRC) MANE Select NP_714544.1:p.Asn1651Asp
XM_011521277.1:c.5440A>G (STRC) XP_011519579.1:p.Asn1814Asp
XM_011521278.1:c.5056A>G (STRC) XP_011519580.1:p.Asn1686Asp
XM_011521279.1:c.5056A>G (STRC) XP_011519581.1:p.Asn1686Asp