Canonical Allele Identifier: CA16609494
Gene: DHX30 HGNC NCBI

Linked Data

ClinVar Variation Id: 402130
dbSNP Id: rs1060499733

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47846757A>G , CM000665.2:g.47846757A>G GRCh38
NC_000003.11:g.47888247A>G , CM000665.1:g.47888247A>G GRCh37
NC_000003.10:g.47863251A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000445061.6:c.1685A>G MANE Select ENSP00000405620.1:p.His562Arg
ENST00000348968.8:c.1601A>G ENSP00000343442.4:p.His534Arg
ENST00000395745.6:c.*1585A>G ENSP00000379094.2:n.*1585A>G
ENST00000445061.5:c.1685A>G ENSP00000405620.1:p.His562Arg
ENST00000446256.6:c.1685A>G ENSP00000392601.3:p.His562Arg
ENST00000457607.1:c.1769A>G ENSP00000394682.1:p.His590Arg
ENST00000619982.4:c.1568A>G ENSP00000483160.1:p.His523Arg
NM_014966.3:c.1568A>G NP_055781.2:p.His523Arg
NM_138615.2:c.1685A>G NP_619520.1:p.His562Arg
XM_006713033.1:c.1589A>G XP_006713096.1:p.His530Arg
XM_011533490.1:c.1898A>G XP_011531792.1:p.His633Arg
XM_011533491.1:c.1898A>G XP_011531793.1:p.His633Arg
XM_011533492.1:c.1898A>G XP_011531794.1:p.His633Arg
XM_011533493.1:c.1787A>G XP_011531795.1:p.His596Arg
XM_011533494.1:c.1685A>G XP_011531796.1:p.His562Arg
XM_011533495.1:c.1685A>G XP_011531797.1:p.His562Arg
XM_011533496.1:c.1601A>G XP_011531798.1:p.His534Arg
XM_011533497.1:c.1601A>G XP_011531799.1:p.His534Arg
XM_011533498.1:c.1601A>G XP_011531800.1:p.His534Arg
NM_001330990.1:c.1601A>G NP_001317919.1:p.His534Arg
XM_011533490.2:c.1898A>G XP_011531792.1:p.His633Arg
XM_011533494.3:c.1685A>G XP_011531796.1:p.His562Arg
XM_011533495.2:c.1685A>G XP_011531797.1:p.His562Arg
XM_011533497.2:c.1601A>G XP_011531799.1:p.His534Arg
XM_017005914.1:c.1817A>G XP_016861403.1:p.His606Arg
XM_017005915.1:c.1589A>G XP_016861404.1:p.His530Arg
XM_017005916.2:c.1574A>G XP_016861405.1:p.His525Arg
XM_017005917.1:c.1568A>G XP_016861406.1:p.His523Arg
XM_024453405.1:c.1787A>G XP_024309173.1:p.His596Arg
NM_138615.3:c.1685A>G MANE Select NP_619520.1:p.His562Arg
NM_001330990.2:c.1601A>G NP_001317919.1:p.His534Arg
NM_014966.4:c.1568A>G NP_055781.2:p.His523Arg