Canonical Allele Identifier: CA2592113551
Gene: CKMT1B HGNC NCBI
STRC HGNC NCBI

Linked Data

dbSNP Id: rs2141516901
gnomAD v3: 15-43599465-A-C
gnomAD v4: 15-43599465-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599465A>C , CM000677.2:g.43599465A>C GRCh38
NC_000015.9:g.43891663A>C , CM000677.1:g.43891663A>C GRCh37
NC_000015.8:g.41678955A>C NCBI36
NG_011636.1:g.24336T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411560.1:n.74A>C (CKMT1B)
ENST00000450892.6:c.*207T>G (STRC) ENSP00000401513.2:n.*207T>G
XM_011521277.1:c.*207T>G (STRC) XP_011519579.1:n.*207T>G
XM_011521278.1:c.*207T>G (STRC) XP_011519580.1:n.*207T>G
XM_011521279.1:c.*207T>G (STRC) XP_011519581.1:n.*207T>G
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