Canonical Allele Identifier: CA352590671

Gene: DHX30

Linked Data

• ClinVar Variation Id: 2579793
• ClinVar RCV Id: RCV003328768
• MyVariant Identifiers: chr3:g.47889806T>A (hg19) ; chr3:g.47848316T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848316T>A , CM000665.2:g.47848316T>A	GRCh38
NC_000003.11:g.47889806T>A , CM000665.1:g.47889806T>A	GRCh37
NC_000003.10:g.47864810T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2423T>A MANE Select	ENSP00000405620.1:p.Val808Glu
ENST00000348968.8:c.2339T>A	ENSP00000343442.4:p.Val780Glu
ENST00000395745.6:c.*2323T>A	ENSP00000379094.2:n.*2323T>A
ENST00000445061.5:c.2423T>A	ENSP00000405620.1:p.Val808Glu
ENST00000446256.6:c.2423T>A	ENSP00000392601.3:p.Val808Glu
ENST00000457607.1:c.2507T>A	ENSP00000394682.1:p.Val836Glu
ENST00000474183.1:n.540T>A
ENST00000619982.4:c.2306T>A	ENSP00000483160.1:p.Val769Glu
NM_014966.3:c.2306T>A	NP_055781.2:p.Val769Glu
NM_138615.2:c.2423T>A	NP_619520.1:p.Val808Glu
XM_006713033.1:c.2327T>A	XP_006713096.1:p.Val776Glu
XM_011533490.1:c.2636T>A	XP_011531792.1:p.Val879Glu
XM_011533491.1:c.2636T>A	XP_011531793.1:p.Val879Glu
XM_011533492.1:c.2636T>A	XP_011531794.1:p.Val879Glu
XM_011533493.1:c.2525T>A	XP_011531795.1:p.Val842Glu
XM_011533494.1:c.2423T>A	XP_011531796.1:p.Val808Glu
XM_011533495.1:c.2423T>A	XP_011531797.1:p.Val808Glu
XM_011533496.1:c.2339T>A	XP_011531798.1:p.Val780Glu
XM_011533497.1:c.2339T>A	XP_011531799.1:p.Val780Glu
XM_011533498.1:c.2339T>A	XP_011531800.1:p.Val780Glu
NM_001330990.1:c.2339T>A	NP_001317919.1:p.Val780Glu
XM_011533490.2:c.2636T>A	XP_011531792.1:p.Val879Glu
XM_011533494.3:c.2423T>A	XP_011531796.1:p.Val808Glu
XM_011533495.2:c.2423T>A	XP_011531797.1:p.Val808Glu
XM_011533497.2:c.2339T>A	XP_011531799.1:p.Val780Glu
XM_017005914.1:c.2555T>A	XP_016861403.1:p.Val852Glu
XM_017005915.1:c.2327T>A	XP_016861404.1:p.Val776Glu
XM_017005916.2:c.2312T>A	XP_016861405.1:p.Val771Glu
XM_017005917.1:c.2306T>A	XP_016861406.1:p.Val769Glu
XM_024453405.1:c.2525T>A	XP_024309173.1:p.Val842Glu
NM_138615.3:c.2423T>A MANE Select	NP_619520.1:p.Val808Glu
NM_001330990.2:c.2339T>A	NP_001317919.1:p.Val780Glu
NM_014966.4:c.2306T>A	NP_055781.2:p.Val769Glu