Canonical Allele Identifier: CA6872058

Gene: DHX37

Linked Data

• ClinVar Variation Id: 2151231
• ClinVar RCV Id: RCV003061232
• dbSNP Id: rs201964195
• ExAC: 12:125453114 C / T
• gnomAD v2: 12-125453114-C-T
• gnomAD v3: 12-124968568-C-T
• gnomAD v4: 12-124968568-C-T
• MyVariant Identifiers: chr12:g.125453114C>T (hg19) ; chr12:g.124968568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968568C>T , CM000674.2:g.124968568C>T	GRCh38
NC_000012.11:g.125453114C>T , CM000674.1:g.125453114C>T	GRCh37
NC_000012.10:g.124019067C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.1374G>A MANE Select	ENSP00000311135.2:p.Arg458=
ENST00000544745.2:c.845G>A
ENST00000679875.1:n.1446G>A
ENST00000308736.6:c.1374G>A	ENSP00000311135.2:p.Arg458=
ENST00000539298.1:n.1474G>A
ENST00000544745.1:c.735G>A	ENSP00000439009.1:p.Arg245=
NM_032656.3:c.1374G>A	NP_116045.2:p.Arg458=
XM_005253590.2:c.1374G>A	XP_005253647.1:p.Arg458=
XM_011538597.1:c.1374G>A	XP_011536899.1:p.Arg458=
XM_011538598.1:c.1374G>A	XP_011536900.1:p.Arg458=
XM_011538599.1:c.1374G>A	XP_011536901.1:p.Arg458=
XM_011538600.1:c.1374G>A	XP_011536902.1:p.Arg458=
XM_005253590.3:c.1374G>A	XP_005253647.1:p.Arg458=
XM_011538598.2:c.1374G>A	XP_011536900.1:p.Arg458=
XM_011538600.2:c.1374G>A	XP_011536902.1:p.Arg458=
XR_001748819.1:n.1477G>A
XR_001748820.1:n.1477G>A
NM_032656.4:c.1374G>A MANE Select	NP_116045.2:p.Arg458=