Canonical Allele Identifier: CA969211862
Gene: CKMT1B HGNC NCBI
STRC HGNC NCBI

Linked Data

dbSNP Id: rs2085648540
gnomAD v3: 15-43599560-C-A
gnomAD v4: 15-43599560-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599560C>A , CM000677.2:g.43599560C>A GRCh38
NC_000015.9:g.43891758C>A , CM000677.1:g.43891758C>A GRCh37
NC_000015.8:g.41679050C>A NCBI36
NG_011636.1:g.24241G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411560.1:n.142+27C>A (CKMT1B)
ENST00000450892.6:c.*112G>T (STRC) ENSP00000401513.2:n.*112G>T
XM_011521277.1:c.*112G>T (STRC) XP_011519579.1:n.*112G>T
XM_011521278.1:c.*112G>T (STRC) XP_011519580.1:n.*112G>T
XM_011521279.1:c.*112G>T (STRC) XP_011519581.1:n.*112G>T
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