Canonical Allele Identifier: CA6872053

Gene: DHX37

Linked Data

• ClinVar Variation Id: 691925
• ClinVar RCV Id: RCV001532726 ; RCV000853096 ; RCV001261668
• dbSNP Id: rs149331610
• ExAC: 12:125453089 G / C
• gnomAD v2: 12-125453089-G-C
• gnomAD v3: 12-124968543-G-C
• gnomAD v4: 12-124968543-G-C
• MyVariant Identifiers: chr12:g.125453089G>C (hg19) ; chr12:g.124968543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968543G>C , CM000674.2:g.124968543G>C	GRCh38
NC_000012.11:g.125453089G>C , CM000674.1:g.125453089G>C	GRCh37
NC_000012.10:g.124019042G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.1399C>G MANE Select	ENSP00000311135.2:p.Leu467Val
ENST00000544745.2:c.870C>G
ENST00000679875.1:n.1471C>G
ENST00000308736.6:c.1399C>G	ENSP00000311135.2:p.Leu467Val
ENST00000539298.1:n.1499C>G
ENST00000544745.1:c.760C>G	ENSP00000439009.1:p.Leu254Val
NM_032656.3:c.1399C>G	NP_116045.2:p.Leu467Val
XM_005253590.2:c.1399C>G	XP_005253647.1:p.Leu467Val
XM_011538597.1:c.1399C>G	XP_011536899.1:p.Leu467Val
XM_011538598.1:c.1399C>G	XP_011536900.1:p.Leu467Val
XM_011538599.1:c.1399C>G	XP_011536901.1:p.Leu467Val
XM_011538600.1:c.1399C>G	XP_011536902.1:p.Leu467Val
XM_005253590.3:c.1399C>G	XP_005253647.1:p.Leu467Val
XM_011538598.2:c.1399C>G	XP_011536900.1:p.Leu467Val
XM_011538600.2:c.1399C>G	XP_011536902.1:p.Leu467Val
XR_001748819.1:n.1502C>G
XR_001748820.1:n.1502C>G
NM_032656.4:c.1399C>G MANE Select	NP_116045.2:p.Leu467Val