Canonical Allele Identifier: CA352590365
Gene: DHX30 HGNC NCBI

Linked Data

ClinVar Variation Id: 426111
dbSNP Id: rs1085307451

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848246C>T , CM000665.2:g.47848246C>T GRCh38
NC_000003.11:g.47889736C>T , CM000665.1:g.47889736C>T GRCh37
NC_000003.10:g.47864740C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2353C>T MANE Select ENSP00000405620.1:p.Arg785Cys
ENST00000348968.8:c.2269C>T ENSP00000343442.4:p.Arg757Cys
ENST00000395745.6:c.*2253C>T ENSP00000379094.2:n.*2253C>T
ENST00000445061.5:c.2353C>T ENSP00000405620.1:p.Arg785Cys
ENST00000446256.6:c.2353C>T ENSP00000392601.3:p.Arg785Cys
ENST00000457607.1:c.2437C>T ENSP00000394682.1:p.Arg813Cys
ENST00000474183.1:n.470C>T
ENST00000619982.4:c.2236C>T ENSP00000483160.1:p.Arg746Cys
NM_014966.3:c.2236C>T NP_055781.2:p.Arg746Cys
NM_138615.2:c.2353C>T NP_619520.1:p.Arg785Cys
XM_006713033.1:c.2257C>T XP_006713096.1:p.Arg753Cys
XM_011533490.1:c.2566C>T XP_011531792.1:p.Arg856Cys
XM_011533491.1:c.2566C>T XP_011531793.1:p.Arg856Cys
XM_011533492.1:c.2566C>T XP_011531794.1:p.Arg856Cys
XM_011533493.1:c.2455C>T XP_011531795.1:p.Arg819Cys
XM_011533494.1:c.2353C>T XP_011531796.1:p.Arg785Cys
XM_011533495.1:c.2353C>T XP_011531797.1:p.Arg785Cys
XM_011533496.1:c.2269C>T XP_011531798.1:p.Arg757Cys
XM_011533497.1:c.2269C>T XP_011531799.1:p.Arg757Cys
XM_011533498.1:c.2269C>T XP_011531800.1:p.Arg757Cys
NM_001330990.1:c.2269C>T NP_001317919.1:p.Arg757Cys
XM_011533490.2:c.2566C>T XP_011531792.1:p.Arg856Cys
XM_011533494.3:c.2353C>T XP_011531796.1:p.Arg785Cys
XM_011533495.2:c.2353C>T XP_011531797.1:p.Arg785Cys
XM_011533497.2:c.2269C>T XP_011531799.1:p.Arg757Cys
XM_017005914.1:c.2485C>T XP_016861403.1:p.Arg829Cys
XM_017005915.1:c.2257C>T XP_016861404.1:p.Arg753Cys
XM_017005916.2:c.2242C>T XP_016861405.1:p.Arg748Cys
XM_017005917.1:c.2236C>T XP_016861406.1:p.Arg746Cys
XM_024453405.1:c.2455C>T XP_024309173.1:p.Arg819Cys
NM_138615.3:c.2353C>T MANE Select NP_619520.1:p.Arg785Cys
NM_001330990.2:c.2269C>T NP_001317919.1:p.Arg757Cys
NM_014966.4:c.2236C>T NP_055781.2:p.Arg746Cys