Canonical Allele Identifier: CA387217481

Gene: DHX37

Linked Data

• ClinVar Variation Id: 1976864
• ClinVar RCV Id: RCV002731633
• MyVariant Identifiers: chr12:g.125434768G>C (hg19) ; chr12:g.124950222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124950222G>C , CM000674.2:g.124950222G>C	GRCh38
NC_000012.11:g.125434768G>C , CM000674.1:g.125434768G>C	GRCh37
NC_000012.10:g.124000721G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.3143C>G MANE Select	ENSP00000311135.2:p.Pro1048Arg
ENST00000544745.2:c.2614C>G
ENST00000308736.6:c.3143C>G	ENSP00000311135.2:p.Pro1048Arg
ENST00000539298.1:n.3243C>G
ENST00000542400.5:n.1757C>G
ENST00000544745.1:c.2504C>G	ENSP00000439009.1:p.Pro835Arg
NM_032656.3:c.3143C>G	NP_116045.2:p.Pro1048Arg
XM_005253590.2:c.3143C>G	XP_005253647.1:p.Pro1048Arg
XM_005253590.3:c.3143C>G	XP_005253647.1:p.Pro1048Arg
XR_001748819.1:n.3283C>G
XR_001748820.1:n.3236C>G
NM_032656.4:c.3143C>G MANE Select	NP_116045.2:p.Pro1048Arg