Canonical Allele Identifier: CA6871376

Gene: DHX37

Linked Data

• ClinVar Variation Id: 2161758
• ClinVar RCV Id: RCV003078734 ; RCV003089658
• dbSNP Id: rs144143802
• ExAC: 12:125434998 C / T
• gnomAD v2: 12-125434998-C-T
• gnomAD v3: 12-124950452-C-T
• gnomAD v4: 12-124950452-C-T
• MyVariant Identifiers: chr12:g.125434998C>T (hg19) ; chr12:g.124950452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124950452C>T , CM000674.2:g.124950452C>T	GRCh38
NC_000012.11:g.125434998C>T , CM000674.1:g.125434998C>T	GRCh37
NC_000012.10:g.124000951C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.3082G>A MANE Select	ENSP00000311135.2:p.Glu1028Lys
ENST00000544745.2:c.2553G>A
ENST00000308736.6:c.3082G>A	ENSP00000311135.2:p.Glu1028Lys
ENST00000539298.1:n.3182G>A
ENST00000542400.5:n.1696G>A
ENST00000544745.1:c.2443G>A	ENSP00000439009.1:p.Glu815Lys
NM_032656.3:c.3082G>A	NP_116045.2:p.Glu1028Lys
XM_005253590.2:c.3082G>A	XP_005253647.1:p.Glu1028Lys
XM_005253590.3:c.3082G>A	XP_005253647.1:p.Glu1028Lys
XR_001748819.1:n.3222G>A
XR_001748820.1:n.3175G>A
NM_032656.4:c.3082G>A MANE Select	NP_116045.2:p.Glu1028Lys