Canonical Allele Identifier: CA387226246

Gene: DHX37

Linked Data

• dbSNP Id: rs368046437
• gnomAD v2: 12-125453471-C-G
• gnomAD v4: 12-124968925-C-G
• MyVariant Identifiers: chr12:g.125453471C>G (hg19) ; chr12:g.124968925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968925C>G , CM000674.2:g.124968925C>G	GRCh38
NC_000012.11:g.125453471C>G , CM000674.1:g.125453471C>G	GRCh37
NC_000012.10:g.124019424C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.1235G>C MANE Select	ENSP00000311135.2:p.Arg412Pro
ENST00000544745.2:c.706G>C
ENST00000679875.1:n.1307G>C
ENST00000308736.6:c.1235G>C	ENSP00000311135.2:p.Arg412Pro
ENST00000539298.1:n.1335G>C
ENST00000544745.1:c.596G>C	ENSP00000439009.1:p.Arg199Pro
NM_032656.3:c.1235G>C	NP_116045.2:p.Arg412Pro
XM_005253590.2:c.1235G>C	XP_005253647.1:p.Arg412Pro
XM_011538597.1:c.1235G>C	XP_011536899.1:p.Arg412Pro
XM_011538598.1:c.1235G>C	XP_011536900.1:p.Arg412Pro
XM_011538599.1:c.1235G>C	XP_011536901.1:p.Arg412Pro
XM_011538600.1:c.1235G>C	XP_011536902.1:p.Arg412Pro
XM_005253590.3:c.1235G>C	XP_005253647.1:p.Arg412Pro
XM_011538598.2:c.1235G>C	XP_011536900.1:p.Arg412Pro
XM_011538600.2:c.1235G>C	XP_011536902.1:p.Arg412Pro
XR_001748819.1:n.1338G>C
XR_001748820.1:n.1338G>C
NM_032656.4:c.1235G>C MANE Select	NP_116045.2:p.Arg412Pro