Canonical Allele Identifier: CA6872118

Gene: DHX37

Linked Data

• ClinVar Variation Id: 2076572
• ClinVar RCV Id: RCV002972384 ; RCV002979351
• dbSNP Id: rs201628977
• ExAC: 12:125453414 T / C
• gnomAD v2: 12-125453414-T-C
• gnomAD v3: 12-124968868-T-C
• gnomAD v4: 12-124968868-T-C
• MyVariant Identifiers: chr12:g.125453414T>C (hg19) ; chr12:g.124968868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968868T>C , CM000674.2:g.124968868T>C	GRCh38
NC_000012.11:g.125453414T>C , CM000674.1:g.125453414T>C	GRCh37
NC_000012.10:g.124019367T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.1292A>G MANE Select	ENSP00000311135.2:p.Lys431Arg
ENST00000544745.2:c.763A>G
ENST00000679875.1:n.1364A>G
ENST00000308736.6:c.1292A>G	ENSP00000311135.2:p.Lys431Arg
ENST00000539298.1:n.1392A>G
ENST00000544745.1:c.653A>G	ENSP00000439009.1:p.Lys218Arg
NM_032656.3:c.1292A>G	NP_116045.2:p.Lys431Arg
XM_005253590.2:c.1292A>G	XP_005253647.1:p.Lys431Arg
XM_011538597.1:c.1292A>G	XP_011536899.1:p.Lys431Arg
XM_011538598.1:c.1292A>G	XP_011536900.1:p.Lys431Arg
XM_011538599.1:c.1292A>G	XP_011536901.1:p.Lys431Arg
XM_011538600.1:c.1292A>G	XP_011536902.1:p.Lys431Arg
XM_005253590.3:c.1292A>G	XP_005253647.1:p.Lys431Arg
XM_011538598.2:c.1292A>G	XP_011536900.1:p.Lys431Arg
XM_011538600.2:c.1292A>G	XP_011536902.1:p.Lys431Arg
XR_001748819.1:n.1395A>G
XR_001748820.1:n.1395A>G
NM_032656.4:c.1292A>G MANE Select	NP_116045.2:p.Lys431Arg