Canonical Allele Identifier: CA352590396

Gene: DHX30

Linked Data

• ClinVar Variation Id: 2576175
• ClinVar RCV Id: RCV003322236
• MyVariant Identifiers: chr3:g.47889742C>T (hg19) ; chr3:g.47848252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848252C>T , CM000665.2:g.47848252C>T	GRCh38
NC_000003.11:g.47889742C>T , CM000665.1:g.47889742C>T	GRCh37
NC_000003.10:g.47864746C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2359C>T MANE Select	ENSP00000405620.1:p.Gln787Ter
ENST00000348968.8:c.2275C>T	ENSP00000343442.4:p.Gln759Ter
ENST00000395745.6:c.*2259C>T	ENSP00000379094.2:n.*2259C>T
ENST00000445061.5:c.2359C>T	ENSP00000405620.1:p.Gln787Ter
ENST00000446256.6:c.2359C>T	ENSP00000392601.3:p.Gln787Ter
ENST00000457607.1:c.2443C>T	ENSP00000394682.1:p.Gln815Ter
ENST00000474183.1:n.476C>T
ENST00000619982.4:c.2242C>T	ENSP00000483160.1:p.Gln748Ter
NM_014966.3:c.2242C>T	NP_055781.2:p.Gln748Ter
NM_138615.2:c.2359C>T	NP_619520.1:p.Gln787Ter
XM_006713033.1:c.2263C>T	XP_006713096.1:p.Gln755Ter
XM_011533490.1:c.2572C>T	XP_011531792.1:p.Gln858Ter
XM_011533491.1:c.2572C>T	XP_011531793.1:p.Gln858Ter
XM_011533492.1:c.2572C>T	XP_011531794.1:p.Gln858Ter
XM_011533493.1:c.2461C>T	XP_011531795.1:p.Gln821Ter
XM_011533494.1:c.2359C>T	XP_011531796.1:p.Gln787Ter
XM_011533495.1:c.2359C>T	XP_011531797.1:p.Gln787Ter
XM_011533496.1:c.2275C>T	XP_011531798.1:p.Gln759Ter
XM_011533497.1:c.2275C>T	XP_011531799.1:p.Gln759Ter
XM_011533498.1:c.2275C>T	XP_011531800.1:p.Gln759Ter
NM_001330990.1:c.2275C>T	NP_001317919.1:p.Gln759Ter
XM_011533490.2:c.2572C>T	XP_011531792.1:p.Gln858Ter
XM_011533494.3:c.2359C>T	XP_011531796.1:p.Gln787Ter
XM_011533495.2:c.2359C>T	XP_011531797.1:p.Gln787Ter
XM_011533497.2:c.2275C>T	XP_011531799.1:p.Gln759Ter
XM_017005914.1:c.2491C>T	XP_016861403.1:p.Gln831Ter
XM_017005915.1:c.2263C>T	XP_016861404.1:p.Gln755Ter
XM_017005916.2:c.2248C>T	XP_016861405.1:p.Gln750Ter
XM_017005917.1:c.2242C>T	XP_016861406.1:p.Gln748Ter
XM_024453405.1:c.2461C>T	XP_024309173.1:p.Gln821Ter
NM_138615.3:c.2359C>T MANE Select	NP_619520.1:p.Gln787Ter
NM_001330990.2:c.2275C>T	NP_001317919.1:p.Gln759Ter
NM_014966.4:c.2242C>T	NP_055781.2:p.Gln748Ter