Canonical Allele Identifier: CA352590368

Gene: DHX30

Linked Data

• ClinVar Variation Id: 453272
• ClinVar RCV Id: RCV000558538 ; RCV001265678
• dbSNP Id: rs1553706799
• MyVariant Identifiers: chr3:g.47889737G>A (hg19) ; chr3:g.47848247G>A (hg38)
• PubMed: PMID:28135719 ; PMID:29100085

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848247G>A , CM000665.2:g.47848247G>A	GRCh38
NC_000003.11:g.47889737G>A , CM000665.1:g.47889737G>A	GRCh37
NC_000003.10:g.47864741G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2354G>A MANE Select	ENSP00000405620.1:p.Arg785His
ENST00000348968.8:c.2270G>A	ENSP00000343442.4:p.Arg757His
ENST00000395745.6:c.*2254G>A	ENSP00000379094.2:n.*2254G>A
ENST00000445061.5:c.2354G>A	ENSP00000405620.1:p.Arg785His
ENST00000446256.6:c.2354G>A	ENSP00000392601.3:p.Arg785His
ENST00000457607.1:c.2438G>A	ENSP00000394682.1:p.Arg813His
ENST00000474183.1:n.471G>A
ENST00000619982.4:c.2237G>A	ENSP00000483160.1:p.Arg746His
NM_014966.3:c.2237G>A	NP_055781.2:p.Arg746His
NM_138615.2:c.2354G>A	NP_619520.1:p.Arg785His
XM_006713033.1:c.2258G>A	XP_006713096.1:p.Arg753His
XM_011533490.1:c.2567G>A	XP_011531792.1:p.Arg856His
XM_011533491.1:c.2567G>A	XP_011531793.1:p.Arg856His
XM_011533492.1:c.2567G>A	XP_011531794.1:p.Arg856His
XM_011533493.1:c.2456G>A	XP_011531795.1:p.Arg819His
XM_011533494.1:c.2354G>A	XP_011531796.1:p.Arg785His
XM_011533495.1:c.2354G>A	XP_011531797.1:p.Arg785His
XM_011533496.1:c.2270G>A	XP_011531798.1:p.Arg757His
XM_011533497.1:c.2270G>A	XP_011531799.1:p.Arg757His
XM_011533498.1:c.2270G>A	XP_011531800.1:p.Arg757His
NM_001330990.1:c.2270G>A	NP_001317919.1:p.Arg757His
XM_011533490.2:c.2567G>A	XP_011531792.1:p.Arg856His
XM_011533494.3:c.2354G>A	XP_011531796.1:p.Arg785His
XM_011533495.2:c.2354G>A	XP_011531797.1:p.Arg785His
XM_011533497.2:c.2270G>A	XP_011531799.1:p.Arg757His
XM_017005914.1:c.2486G>A	XP_016861403.1:p.Arg829His
XM_017005915.1:c.2258G>A	XP_016861404.1:p.Arg753His
XM_017005916.2:c.2243G>A	XP_016861405.1:p.Arg748His
XM_017005917.1:c.2237G>A	XP_016861406.1:p.Arg746His
XM_024453405.1:c.2456G>A	XP_024309173.1:p.Arg819His
NM_138615.3:c.2354G>A MANE Select	NP_619520.1:p.Arg785His
NM_001330990.2:c.2270G>A	NP_001317919.1:p.Arg757His
NM_014966.4:c.2237G>A	NP_055781.2:p.Arg746His