Canonical Allele Identifier: CA387218607

Gene: DHX37

Linked Data

• ClinVar Variation Id: 1318584
• ClinVar RCV Id: RCV001768208
• dbSNP Id: rs1953956855
• MyVariant Identifiers: chr12:g.125435096C>G (hg19) ; chr12:g.124950550C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124950550C>G , CM000674.2:g.124950550C>G	GRCh38
NC_000012.11:g.125435096C>G , CM000674.1:g.125435096C>G	GRCh37
NC_000012.10:g.124001049C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.2984G>C MANE Select	ENSP00000311135.2:p.Gly995Ala
ENST00000544745.2:c.2455G>C
ENST00000308736.6:c.2984G>C	ENSP00000311135.2:p.Gly995Ala
ENST00000539298.1:n.3084G>C
ENST00000542400.5:n.1598G>C
ENST00000544745.1:c.2345G>C	ENSP00000439009.1:p.Gly782Ala
NM_032656.3:c.2984G>C	NP_116045.2:p.Gly995Ala
XM_005253590.2:c.2984G>C	XP_005253647.1:p.Gly995Ala
XM_011538597.1:c.3021G>C	XP_011536899.1:p.Trp1007Cys
XM_005253590.3:c.2984G>C	XP_005253647.1:p.Gly995Ala
XR_001748819.1:n.3124G>C
XR_001748820.1:n.3077G>C
NM_032656.4:c.2984G>C MANE Select	NP_116045.2:p.Gly995Ala