Canonical Allele Identifier: CA6872071

Gene: DHX37

Linked Data

• dbSNP Id: rs776582648
• ExAC: 12:125453166 A / G
• gnomAD v2: 12-125453166-A-G
• MyVariant Identifiers: chr12:g.125453166A>G (hg19) ; chr12:g.124968620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968620A>G , CM000674.2:g.124968620A>G	GRCh38
NC_000012.11:g.125453166A>G , CM000674.1:g.125453166A>G	GRCh37
NC_000012.10:g.124019119A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.1322T>C MANE Select	ENSP00000311135.2:p.Val441Ala
ENST00000544745.2:c.793T>C
ENST00000679875.1:n.1394T>C
ENST00000308736.6:c.1322T>C	ENSP00000311135.2:p.Val441Ala
ENST00000539298.1:n.1422T>C
ENST00000544745.1:c.683T>C	ENSP00000439009.1:p.Val228Ala
NM_032656.3:c.1322T>C	NP_116045.2:p.Val441Ala
XM_005253590.2:c.1322T>C	XP_005253647.1:p.Val441Ala
XM_011538597.1:c.1322T>C	XP_011536899.1:p.Val441Ala
XM_011538598.1:c.1322T>C	XP_011536900.1:p.Val441Ala
XM_011538599.1:c.1322T>C	XP_011536901.1:p.Val441Ala
XM_011538600.1:c.1322T>C	XP_011536902.1:p.Val441Ala
XM_005253590.3:c.1322T>C	XP_005253647.1:p.Val441Ala
XM_011538598.2:c.1322T>C	XP_011536900.1:p.Val441Ala
XM_011538600.2:c.1322T>C	XP_011536902.1:p.Val441Ala
XR_001748819.1:n.1425T>C
XR_001748820.1:n.1425T>C
NM_032656.4:c.1322T>C MANE Select	NP_116045.2:p.Val441Ala