Canonical Allele Identifier: CA270006914
Gene: CKMT1B HGNC NCBI
STRC HGNC NCBI

Linked Data

dbSNP Id: rs916434752
gnomAD v2: 15-43891622-T-C
gnomAD v3: 15-43599424-T-C
gnomAD v4: 15-43599424-T-C
MyVariant Identifiers: chr15:g.43891622T>C (hg19) chr15:g.43599424T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599424T>C , CM000677.2:g.43599424T>C GRCh38
NC_000015.9:g.43891622T>C , CM000677.1:g.43891622T>C GRCh37
NC_000015.8:g.41678914T>C NCBI36
NG_011636.1:g.24377A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411560.1:n.33T>C (CKMT1B)
ENST00000450892.6:c.*248A>G (STRC) ENSP00000401513.2:n.*248A>G
XM_011521277.1:c.*248A>G (STRC) XP_011519579.1:n.*248A>G
XM_011521278.1:c.*248A>G (STRC) XP_011519580.1:n.*248A>G
XM_011521279.1:c.*248A>G (STRC) XP_011519581.1:n.*248A>G
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