Canonical Allele Identifier: CA969211848
Gene: CKMT1B HGNC NCBI
STRC HGNC NCBI

Linked Data

dbSNP Id: rs2085647434
gnomAD v3: 15-43599484-A-G
gnomAD v4: 15-43599484-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599484A>G , CM000677.2:g.43599484A>G GRCh38
NC_000015.9:g.43891682A>G , CM000677.1:g.43891682A>G GRCh37
NC_000015.8:g.41678974A>G NCBI36
NG_011636.1:g.24317T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411560.1:n.93A>G (CKMT1B)
ENST00000450892.6:c.*188T>C (STRC) ENSP00000401513.2:n.*188T>C
XM_011521277.1:c.*188T>C (STRC) XP_011519579.1:n.*188T>C
XM_011521278.1:c.*188T>C (STRC) XP_011519580.1:n.*188T>C
XM_011521279.1:c.*188T>C (STRC) XP_011519581.1:n.*188T>C
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