Canonical Allele Identifier: CA482291573

Gene: DHX37

Linked Data

• dbSNP Id: rs1954457518
• gnomAD v4: 12-124968912-G-A
• MyVariant Identifiers: chr12:g.125453458G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968912G>A , CM000674.2:g.124968912G>A	GRCh38
NC_000012.11:g.125453458G>A , CM000674.1:g.125453458G>A	GRCh37
NC_000012.10:g.124019411G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000308736.7:c.1248C>T MANE Select	ENSP00000311135.2:p.Phe416=
ENST00000544745.2:c.719C>T
ENST00000679875.1:n.1320C>T
ENST00000308736.6:c.1248C>T	ENSP00000311135.2:p.Phe416=
ENST00000539298.1:n.1348C>T
ENST00000544745.1:c.609C>T	ENSP00000439009.1:p.Phe203=
NM_032656.3:c.1248C>T	NP_116045.2:p.Phe416=
XM_005253590.2:c.1248C>T	XP_005253647.1:p.Phe416=
XM_011538597.1:c.1248C>T	XP_011536899.1:p.Phe416=
XM_011538598.1:c.1248C>T	XP_011536900.1:p.Phe416=
XM_011538599.1:c.1248C>T	XP_011536901.1:p.Phe416=
XM_011538600.1:c.1248C>T	XP_011536902.1:p.Phe416=
XM_005253590.3:c.1248C>T	XP_005253647.1:p.Phe416=
XM_011538598.2:c.1248C>T	XP_011536900.1:p.Phe416=
XM_011538600.2:c.1248C>T	XP_011536902.1:p.Phe416=
XR_001748819.1:n.1351C>T
XR_001748820.1:n.1351C>T
NM_032656.4:c.1248C>T MANE Select	NP_116045.2:p.Phe416=