Canonical Allele Identifier: CA352590132
Gene: DHX30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848189C>G , CM000665.2:g.47848189C>G GRCh38
NC_000003.11:g.47889679C>G , CM000665.1:g.47889679C>G GRCh37
NC_000003.10:g.47864683C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2296C>G MANE Select ENSP00000405620.1:p.Leu766Val
ENST00000348968.8:c.2212C>G ENSP00000343442.4:p.Leu738Val
ENST00000395745.6:c.*2196C>G ENSP00000379094.2:n.*2196C>G
ENST00000445061.5:c.2296C>G ENSP00000405620.1:p.Leu766Val
ENST00000446256.6:c.2296C>G ENSP00000392601.3:p.Leu766Val
ENST00000457607.1:c.2380C>G ENSP00000394682.1:p.Leu794Val
ENST00000474183.1:n.413C>G
ENST00000619982.4:c.2179C>G ENSP00000483160.1:p.Leu727Val
NM_014966.3:c.2179C>G NP_055781.2:p.Leu727Val
NM_138615.2:c.2296C>G NP_619520.1:p.Leu766Val
XM_006713033.1:c.2200C>G XP_006713096.1:p.Leu734Val
XM_011533490.1:c.2509C>G XP_011531792.1:p.Leu837Val
XM_011533491.1:c.2509C>G XP_011531793.1:p.Leu837Val
XM_011533492.1:c.2509C>G XP_011531794.1:p.Leu837Val
XM_011533493.1:c.2398C>G XP_011531795.1:p.Leu800Val
XM_011533494.1:c.2296C>G XP_011531796.1:p.Leu766Val
XM_011533495.1:c.2296C>G XP_011531797.1:p.Leu766Val
XM_011533496.1:c.2212C>G XP_011531798.1:p.Leu738Val
XM_011533497.1:c.2212C>G XP_011531799.1:p.Leu738Val
XM_011533498.1:c.2212C>G XP_011531800.1:p.Leu738Val
NM_001330990.1:c.2212C>G NP_001317919.1:p.Leu738Val
XM_011533490.2:c.2509C>G XP_011531792.1:p.Leu837Val
XM_011533494.3:c.2296C>G XP_011531796.1:p.Leu766Val
XM_011533495.2:c.2296C>G XP_011531797.1:p.Leu766Val
XM_011533497.2:c.2212C>G XP_011531799.1:p.Leu738Val
XM_017005914.1:c.2428C>G XP_016861403.1:p.Leu810Val
XM_017005915.1:c.2200C>G XP_016861404.1:p.Leu734Val
XM_017005916.2:c.2185C>G XP_016861405.1:p.Leu729Val
XM_017005917.1:c.2179C>G XP_016861406.1:p.Leu727Val
XM_024453405.1:c.2398C>G XP_024309173.1:p.Leu800Val
NM_138615.3:c.2296C>G MANE Select NP_619520.1:p.Leu766Val
NM_001330990.2:c.2212C>G NP_001317919.1:p.Leu738Val
NM_014966.4:c.2179C>G NP_055781.2:p.Leu727Val