Canonical Allele Identifier: CA10745738
Gene: TSEN15 HGNC NCBI
COSMIC:
COSN6431881 (not active)
MyVariant.info:
GRCh38 chr1:g.184099374C>A
GRCh37 chr1:g.184068508C>A
gnomAD v2:
1:184068508 C / A
gnomAD v3:
1:184099374 C / A
gnomAD v4:
chr1-184099374-C-A
Joint Max Group AF 0.56139637 (EAS)
Genomes Max Group AF 0.56139637 (EAS)
dbSNP:
971572
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.184099374C>A , CM000663.2:g.184099374C>A GRCh38
NC_000001.10:g.184068508C>A , CM000663.1:g.184068508C>A GRCh37
NC_000001.9:g.182335131C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000643916.1:c.*116-13491C>A ENSP00000494533.1:n.*116-13491C>A
ENST00000644592.1:c.354-20346C>A ENSP00000495621.1:n.354-20346C>A
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