Canonical Allele Identifier: CA352590473
Gene: DHX30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848270C>G , CM000665.2:g.47848270C>G GRCh38
NC_000003.11:g.47889760C>G , CM000665.1:g.47889760C>G GRCh37
NC_000003.10:g.47864764C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2377C>G MANE Select ENSP00000405620.1:p.His793Asp
ENST00000348968.8:c.2293C>G ENSP00000343442.4:p.His765Asp
ENST00000395745.6:c.*2277C>G ENSP00000379094.2:n.*2277C>G
ENST00000445061.5:c.2377C>G ENSP00000405620.1:p.His793Asp
ENST00000446256.6:c.2377C>G ENSP00000392601.3:p.His793Asp
ENST00000457607.1:c.2461C>G ENSP00000394682.1:p.His821Asp
ENST00000474183.1:n.494C>G
ENST00000619982.4:c.2260C>G ENSP00000483160.1:p.His754Asp
NM_014966.3:c.2260C>G NP_055781.2:p.His754Asp
NM_138615.2:c.2377C>G NP_619520.1:p.His793Asp
XM_006713033.1:c.2281C>G XP_006713096.1:p.His761Asp
XM_011533490.1:c.2590C>G XP_011531792.1:p.His864Asp
XM_011533491.1:c.2590C>G XP_011531793.1:p.His864Asp
XM_011533492.1:c.2590C>G XP_011531794.1:p.His864Asp
XM_011533493.1:c.2479C>G XP_011531795.1:p.His827Asp
XM_011533494.1:c.2377C>G XP_011531796.1:p.His793Asp
XM_011533495.1:c.2377C>G XP_011531797.1:p.His793Asp
XM_011533496.1:c.2293C>G XP_011531798.1:p.His765Asp
XM_011533497.1:c.2293C>G XP_011531799.1:p.His765Asp
XM_011533498.1:c.2293C>G XP_011531800.1:p.His765Asp
NM_001330990.1:c.2293C>G NP_001317919.1:p.His765Asp
XM_011533490.2:c.2590C>G XP_011531792.1:p.His864Asp
XM_011533494.3:c.2377C>G XP_011531796.1:p.His793Asp
XM_011533495.2:c.2377C>G XP_011531797.1:p.His793Asp
XM_011533497.2:c.2293C>G XP_011531799.1:p.His765Asp
XM_017005914.1:c.2509C>G XP_016861403.1:p.His837Asp
XM_017005915.1:c.2281C>G XP_016861404.1:p.His761Asp
XM_017005916.2:c.2266C>G XP_016861405.1:p.His756Asp
XM_017005917.1:c.2260C>G XP_016861406.1:p.His754Asp
XM_024453405.1:c.2479C>G XP_024309173.1:p.His827Asp
NM_138615.3:c.2377C>G MANE Select NP_619520.1:p.His793Asp
NM_001330990.2:c.2293C>G NP_001317919.1:p.His765Asp
NM_014966.4:c.2260C>G NP_055781.2:p.His754Asp