Canonical Allele Identifier: CA2730854010

Linked Data

dbSNP Id: rs2141516945

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599476G>T , CM000677.2:g.43599476G>T GRCh38
NC_000015.9:g.43891674G>T , CM000677.1:g.43891674G>T GRCh37
NC_000015.8:g.41678966G>T NCBI36
NG_011636.1:g.24325C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411560.1:n.85G>T (CKMT1B)
ENST00000450892.6:c.*196C>A (STRC) ENSP00000401513.2:n.*196C>A
XM_011521277.1:c.*196C>A (STRC) XP_011519579.1:n.*196C>A
XM_011521278.1:c.*196C>A (STRC) XP_011519580.1:n.*196C>A
XM_011521279.1:c.*196C>A (STRC) XP_011519581.1:n.*196C>A