Canonical Allele Identifier: CA6872021
Gene: DHX37 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.124967167C>T
GRCh37 chr12:g.125451713C>T
Revel Score:
ENST00000308736 (MANE Select) 0.159
ENST00000544745 0.159
gnomAD v2:
12:125451713 C / T
gnomAD v3:
12:124967167 C / T
gnomAD v4:
chr12-124967167-C-T
Joint Max Group AF 0.00004101 (NFE)
Genomes Max Group AF 0.00007285 (SAS)
Exomes Max Group AF 0.00004005 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.124967167C>T , CM000674.2:g.124967167C>T GRCh38
NC_000012.11:g.125451713C>T , CM000674.1:g.125451713C>T GRCh37
NC_000012.10:g.124017666C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308736.7:c.1460G>A MANE Select ENSP00000311135.2:p.Arg487His
ENST00000544745.2:c.931G>A
ENST00000679875.1:n.1532G>A
ENST00000308736.6:c.1460G>A ENSP00000311135.2:p.Arg487His
ENST00000539298.1:n.1560G>A
ENST00000544745.1:c.821G>A ENSP00000439009.1:p.Arg274His
NM_032656.3:c.1460G>A NP_116045.2:p.Arg487His
XM_005253590.2:c.1460G>A XP_005253647.1:p.Arg487His
XM_011538597.1:c.1460G>A XP_011536899.1:p.Arg487His
XM_011538598.1:c.1460G>A XP_011536900.1:p.Arg487His
XM_011538599.1:c.1460G>A XP_011536901.1:p.Arg487His
XM_011538600.1:c.1460G>A XP_011536902.1:p.Arg487His
XM_005253590.3:c.1460G>A XP_005253647.1:p.Arg487His
XM_011538598.2:c.1460G>A XP_011536900.1:p.Arg487His
XM_011538600.2:c.1460G>A XP_011536902.1:p.Arg487His
XR_001748819.1:n.1563G>A
XR_001748820.1:n.1563G>A
NM_032656.4:c.1460G>A MANE Select NP_116045.2:p.Arg487His
Search 100 bp 5'
Search 100 bp 3'