Canonical Allele Identifier: CA2876113
Gene: DHX15 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.24576474C>T
GRCh37 chr4:g.24578097C>T
gnomAD v2:
4:24578097 C / T
gnomAD v3:
4:24576474 C / T
gnomAD v4:
chr4-24576474-C-T
Joint Max Group AF 0.10954724 (AFR)
Genomes Max Group AF 0.1077353 (AFR)
Exomes Max Group AF 0.10995796 (AFR)
dbSNP:
6841898
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24576474C>T , CM000666.2:g.24576474C>T GRCh38
NC_000004.11:g.24578097C>T , CM000666.1:g.24578097C>T GRCh37
NC_000004.10:g.24187195C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336812.5:c.276G>A MANE Select ENSP00000336741.4:p.Thr92=
ENST00000336812.4:c.276G>A ENSP00000336741.4:p.Thr92=
ENST00000511553.5:n.527G>A
NM_001358.2:c.276G>A NP_001349.2:p.Thr92=
XR_925314.1:n.486G>A
XR_001741152.2:n.437G>A
NM_001358.3:c.276G>A MANE Select NP_001349.2:p.Thr92=
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