Canonical Allele Identifier: CA352590269
Gene: DHX30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848222A>G , CM000665.2:g.47848222A>G GRCh38
NC_000003.11:g.47889712A>G , CM000665.1:g.47889712A>G GRCh37
NC_000003.10:g.47864716A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2329A>G MANE Select ENSP00000405620.1:p.Ile777Val
ENST00000348968.8:c.2245A>G ENSP00000343442.4:p.Ile749Val
ENST00000395745.6:c.*2229A>G ENSP00000379094.2:n.*2229A>G
ENST00000445061.5:c.2329A>G ENSP00000405620.1:p.Ile777Val
ENST00000446256.6:c.2329A>G ENSP00000392601.3:p.Ile777Val
ENST00000457607.1:c.2413A>G ENSP00000394682.1:p.Ile805Val
ENST00000474183.1:n.446A>G
ENST00000619982.4:c.2212A>G ENSP00000483160.1:p.Ile738Val
NM_014966.3:c.2212A>G NP_055781.2:p.Ile738Val
NM_138615.2:c.2329A>G NP_619520.1:p.Ile777Val
XM_006713033.1:c.2233A>G XP_006713096.1:p.Ile745Val
XM_011533490.1:c.2542A>G XP_011531792.1:p.Ile848Val
XM_011533491.1:c.2542A>G XP_011531793.1:p.Ile848Val
XM_011533492.1:c.2542A>G XP_011531794.1:p.Ile848Val
XM_011533493.1:c.2431A>G XP_011531795.1:p.Ile811Val
XM_011533494.1:c.2329A>G XP_011531796.1:p.Ile777Val
XM_011533495.1:c.2329A>G XP_011531797.1:p.Ile777Val
XM_011533496.1:c.2245A>G XP_011531798.1:p.Ile749Val
XM_011533497.1:c.2245A>G XP_011531799.1:p.Ile749Val
XM_011533498.1:c.2245A>G XP_011531800.1:p.Ile749Val
NM_001330990.1:c.2245A>G NP_001317919.1:p.Ile749Val
XM_011533490.2:c.2542A>G XP_011531792.1:p.Ile848Val
XM_011533494.3:c.2329A>G XP_011531796.1:p.Ile777Val
XM_011533495.2:c.2329A>G XP_011531797.1:p.Ile777Val
XM_011533497.2:c.2245A>G XP_011531799.1:p.Ile749Val
XM_017005914.1:c.2461A>G XP_016861403.1:p.Ile821Val
XM_017005915.1:c.2233A>G XP_016861404.1:p.Ile745Val
XM_017005916.2:c.2218A>G XP_016861405.1:p.Ile740Val
XM_017005917.1:c.2212A>G XP_016861406.1:p.Ile738Val
XM_024453405.1:c.2431A>G XP_024309173.1:p.Ile811Val
NM_138615.3:c.2329A>G MANE Select NP_619520.1:p.Ile777Val
NM_001330990.2:c.2245A>G NP_001317919.1:p.Ile749Val
NM_014966.4:c.2212A>G NP_055781.2:p.Ile738Val