Canonical Allele Identifier: CA6871294
Gene: DHX37 HGNC NCBI
ClinVar RCV:
RCV003550083
ClinVar Variation:
2709672
dbSNP:
201427040
gnomAD v2:
12:125434598 C / T
gnomAD v3:
12:124950052 C / T
gnomAD v4:
chr12-124950052-C-T
Joint Max Group AF 0.00132683 (EAS)
Genomes Max Group AF 0.00104892 (EAS)
Exomes Max Group AF 0.00127289 (EAS)
MyVariant.info:
GRCh38 chr12:g.124950052C>T
GRCh37 chr12:g.125434598C>T
Revel Score:
ENST00000308736 (MANE Select) 0.079
ENST00000544745 0.079
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.124950052C>T , CM000674.2:g.124950052C>T GRCh38
NC_000012.11:g.125434598C>T , CM000674.1:g.125434598C>T GRCh37
NC_000012.10:g.124000551C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308736.7:c.3224G>A MANE Select ENSP00000311135.2:p.Arg1075His
ENST00000544745.2:c.2695G>A
ENST00000308736.6:c.3224G>A ENSP00000311135.2:p.Arg1075His
ENST00000539298.1:n.3324G>A
ENST00000542400.5:n.1838G>A
ENST00000544745.1:c.2585G>A ENSP00000439009.1:p.Arg862His
NM_032656.3:c.3224G>A NP_116045.2:p.Arg1075His
XM_005253590.2:c.3224G>A XP_005253647.1:p.Arg1075His
XM_005253590.3:c.3224G>A XP_005253647.1:p.Arg1075His
XR_001748819.1:n.3364G>A
XR_001748820.1:n.3317G>A
NM_032656.4:c.3224G>A MANE Select NP_116045.2:p.Arg1075His
Search 100 bp 5'
Search 100 bp 3'