Canonical Allele Identifier: CA352590235
Gene: DHX30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848213G>T , CM000665.2:g.47848213G>T GRCh38
NC_000003.11:g.47889703G>T , CM000665.1:g.47889703G>T GRCh37
NC_000003.10:g.47864707G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2320G>T MANE Select ENSP00000405620.1:p.Ala774Ser
ENST00000348968.8:c.2236G>T ENSP00000343442.4:p.Ala746Ser
ENST00000395745.6:c.*2220G>T ENSP00000379094.2:n.*2220G>T
ENST00000445061.5:c.2320G>T ENSP00000405620.1:p.Ala774Ser
ENST00000446256.6:c.2320G>T ENSP00000392601.3:p.Ala774Ser
ENST00000457607.1:c.2404G>T ENSP00000394682.1:p.Ala802Ser
ENST00000474183.1:n.437G>T
ENST00000619982.4:c.2203G>T ENSP00000483160.1:p.Ala735Ser
NM_014966.3:c.2203G>T NP_055781.2:p.Ala735Ser
NM_138615.2:c.2320G>T NP_619520.1:p.Ala774Ser
XM_006713033.1:c.2224G>T XP_006713096.1:p.Ala742Ser
XM_011533490.1:c.2533G>T XP_011531792.1:p.Ala845Ser
XM_011533491.1:c.2533G>T XP_011531793.1:p.Ala845Ser
XM_011533492.1:c.2533G>T XP_011531794.1:p.Ala845Ser
XM_011533493.1:c.2422G>T XP_011531795.1:p.Ala808Ser
XM_011533494.1:c.2320G>T XP_011531796.1:p.Ala774Ser
XM_011533495.1:c.2320G>T XP_011531797.1:p.Ala774Ser
XM_011533496.1:c.2236G>T XP_011531798.1:p.Ala746Ser
XM_011533497.1:c.2236G>T XP_011531799.1:p.Ala746Ser
XM_011533498.1:c.2236G>T XP_011531800.1:p.Ala746Ser
NM_001330990.1:c.2236G>T NP_001317919.1:p.Ala746Ser
XM_011533490.2:c.2533G>T XP_011531792.1:p.Ala845Ser
XM_011533494.3:c.2320G>T XP_011531796.1:p.Ala774Ser
XM_011533495.2:c.2320G>T XP_011531797.1:p.Ala774Ser
XM_011533497.2:c.2236G>T XP_011531799.1:p.Ala746Ser
XM_017005914.1:c.2452G>T XP_016861403.1:p.Ala818Ser
XM_017005915.1:c.2224G>T XP_016861404.1:p.Ala742Ser
XM_017005916.2:c.2209G>T XP_016861405.1:p.Ala737Ser
XM_017005917.1:c.2203G>T XP_016861406.1:p.Ala735Ser
XM_024453405.1:c.2422G>T XP_024309173.1:p.Ala808Ser
NM_138615.3:c.2320G>T MANE Select NP_619520.1:p.Ala774Ser
NM_001330990.2:c.2236G>T NP_001317919.1:p.Ala746Ser
NM_014966.4:c.2203G>T NP_055781.2:p.Ala735Ser