Canonical Allele Identifier: CA608123021

Gene: DHX37

Linked Data

• dbSNP Id: rs1183285364
• gnomAD v2: 12-125453369-C-T
• gnomAD v4: 12-124968823-C-T
• MyVariant Identifiers: chr12:g.125453369C>T (hg19) ; chr12:g.124968823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968823C>T , CM000674.2:g.124968823C>T	GRCh38
NC_000012.11:g.125453369C>T , CM000674.1:g.125453369C>T	GRCh37
NC_000012.10:g.124019322C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000308736.7:c.1293+44G>A MANE Select	ENSP00000311135.2:n.1293+44G>A
ENST00000544745.2:c.764+44G>A
ENST00000679875.1:n.1365+44G>A
ENST00000308736.6:c.1293+44G>A	ENSP00000311135.2:n.1293+44G>A
ENST00000539298.1:n.1393+44G>A
ENST00000544745.1:c.654+44G>A	ENSP00000439009.1:n.654+44G>A
NM_032656.3:c.1293+44G>A	NP_116045.2:n.1293+44G>A
XM_005253590.2:c.1293+44G>A	XP_005253647.1:n.1293+44G>A
XM_011538597.1:c.1293+44G>A	XP_011536899.1:n.1293+44G>A
XM_011538598.1:c.1293+44G>A	XP_011536900.1:n.1293+44G>A
XM_011538599.1:c.1293+44G>A	XP_011536901.1:n.1293+44G>A
XM_011538600.1:c.1293+44G>A	XP_011536902.1:n.1293+44G>A
XM_005253590.3:c.1293+44G>A	XP_005253647.1:n.1293+44G>A
XM_011538598.2:c.1293+44G>A	XP_011536900.1:n.1293+44G>A
XM_011538600.2:c.1293+44G>A	XP_011536902.1:n.1293+44G>A
XR_001748819.1:n.1396+44G>A
XR_001748820.1:n.1396+44G>A
NM_032656.4:c.1293+44G>A MANE Select	NP_116045.2:n.1293+44G>A