Canonical Allele Identifier: CA713003465
Gene: CKMT1B HGNC NCBI
STRC HGNC NCBI

Linked Data

dbSNP Id: rs1392127625
gnomAD v3: 15-43599512-A-G
gnomAD v4: 15-43599512-A-G
MyVariant Identifiers: chr15:g.43891710A>G (hg19) chr15:g.43599512A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599512A>G , CM000677.2:g.43599512A>G GRCh38
NC_000015.9:g.43891710A>G , CM000677.1:g.43891710A>G GRCh37
NC_000015.8:g.41679002A>G NCBI36
NG_011636.1:g.24289T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411560.1:n.121A>G (CKMT1B)
ENST00000450892.6:c.*160T>C (STRC) ENSP00000401513.2:n.*160T>C
XM_011521277.1:c.*160T>C (STRC) XP_011519579.1:n.*160T>C
XM_011521278.1:c.*160T>C (STRC) XP_011519580.1:n.*160T>C
XM_011521279.1:c.*160T>C (STRC) XP_011519581.1:n.*160T>C
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