Canonical Allele Identifier: CA283678379

Gene: DHX38

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72099742G>A , CM000678.2:g.72099742G>A	GRCh38
NC_000016.9:g.72133641G>A , CM000678.1:g.72133641G>A	GRCh37
NC_000016.8:g.70691142G>A	NCBI36
NG_034207.1:g.11027G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014003.4:c.971G>A MANE Select	NP_054722.2:p.Arg324Gln
ENST00000268482.8:c.971G>A MANE Select	ENSP00000268482.3:p.Arg324Gln
NM_014003.3:c.971G>A	NP_054722.2:p.Arg324Gln
ENST00000268482.7:c.971G>A	ENSP00000268482.3:p.Arg324Gln
ENST00000563650.2:n.977G>A
ENST00000564307.5:n.701G>A
ENST00000579387.5:c.323+3262G>A	ENSP00000462149.1:n.323+3262G>A
XM_005256269.1:c.866G>A	XP_005256326.1:p.Arg289Gln
XM_005256269.2:c.866G>A	XP_005256326.1:p.Arg289Gln
XM_011523484.1:c.971G>A	XP_011521786.1:p.Arg324Gln
XM_011523484.2:c.971G>A	XP_011521786.1:p.Arg324Gln
XM_011523485.1:c.971G>A	XP_011521787.1:p.Arg324Gln
XM_017023913.2:c.866G>A	XP_016879402.1:p.Arg289Gln
XR_429741.1:n.1253G>A
XR_429741.3:n.1147G>A