Canonical Allele Identifier: CA6872066

Gene: DHX37

Linked Data

• dbSNP Id: rs778393160
• ExAC: 12:125453144 C / A
• gnomAD v3: 12-124968598-C-A
• gnomAD v4: 12-124968598-C-A
• MyVariant Identifiers: chr12:g.125453144C>A (hg19) ; chr12:g.124968598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968598C>A , CM000674.2:g.124968598C>A	GRCh38
NC_000012.11:g.125453144C>A , CM000674.1:g.125453144C>A	GRCh37
NC_000012.10:g.124019097C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.1344G>T MANE Select	ENSP00000311135.2:p.Pro448=
ENST00000544745.2:c.815G>T
ENST00000679875.1:n.1416G>T
ENST00000308736.6:c.1344G>T	ENSP00000311135.2:p.Pro448=
ENST00000539298.1:n.1444G>T
ENST00000544745.1:c.705G>T	ENSP00000439009.1:p.Pro235=
NM_032656.3:c.1344G>T	NP_116045.2:p.Pro448=
XM_005253590.2:c.1344G>T	XP_005253647.1:p.Pro448=
XM_011538597.1:c.1344G>T	XP_011536899.1:p.Pro448=
XM_011538598.1:c.1344G>T	XP_011536900.1:p.Pro448=
XM_011538599.1:c.1344G>T	XP_011536901.1:p.Pro448=
XM_011538600.1:c.1344G>T	XP_011536902.1:p.Pro448=
XM_005253590.3:c.1344G>T	XP_005253647.1:p.Pro448=
XM_011538598.2:c.1344G>T	XP_011536900.1:p.Pro448=
XM_011538600.2:c.1344G>T	XP_011536902.1:p.Pro448=
XR_001748819.1:n.1447G>T
XR_001748820.1:n.1447G>T
NM_032656.4:c.1344G>T MANE Select	NP_116045.2:p.Pro448=