Canonical Allele Identifier: CA433608709
Gene: DHX30 HGNC NCBI

Linked Data

gnomAD v4: 3-47848200-G-A
MyVariant Identifiers: chr3:g.47889690G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848200G>A , CM000665.2:g.47848200G>A GRCh38
NC_000003.11:g.47889690G>A , CM000665.1:g.47889690G>A GRCh37
NC_000003.10:g.47864694G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2307G>A MANE Select ENSP00000405620.1:p.Val769=
ENST00000348968.8:c.2223G>A ENSP00000343442.4:p.Val741=
ENST00000395745.6:c.*2207G>A ENSP00000379094.2:n.*2207G>A
ENST00000445061.5:c.2307G>A ENSP00000405620.1:p.Val769=
ENST00000446256.6:c.2307G>A ENSP00000392601.3:p.Val769=
ENST00000457607.1:c.2391G>A ENSP00000394682.1:p.Val797=
ENST00000474183.1:n.424G>A
ENST00000619982.4:c.2190G>A ENSP00000483160.1:p.Val730=
NM_014966.3:c.2190G>A NP_055781.2:p.Val730=
NM_138615.2:c.2307G>A NP_619520.1:p.Val769=
XM_006713033.1:c.2211G>A XP_006713096.1:p.Val737=
XM_011533490.1:c.2520G>A XP_011531792.1:p.Val840=
XM_011533491.1:c.2520G>A XP_011531793.1:p.Val840=
XM_011533492.1:c.2520G>A XP_011531794.1:p.Val840=
XM_011533493.1:c.2409G>A XP_011531795.1:p.Val803=
XM_011533494.1:c.2307G>A XP_011531796.1:p.Val769=
XM_011533495.1:c.2307G>A XP_011531797.1:p.Val769=
XM_011533496.1:c.2223G>A XP_011531798.1:p.Val741=
XM_011533497.1:c.2223G>A XP_011531799.1:p.Val741=
XM_011533498.1:c.2223G>A XP_011531800.1:p.Val741=
NM_001330990.1:c.2223G>A NP_001317919.1:p.Val741=
XM_011533490.2:c.2520G>A XP_011531792.1:p.Val840=
XM_011533494.3:c.2307G>A XP_011531796.1:p.Val769=
XM_011533495.2:c.2307G>A XP_011531797.1:p.Val769=
XM_011533497.2:c.2223G>A XP_011531799.1:p.Val741=
XM_017005914.1:c.2439G>A XP_016861403.1:p.Val813=
XM_017005915.1:c.2211G>A XP_016861404.1:p.Val737=
XM_017005916.2:c.2196G>A XP_016861405.1:p.Val732=
XM_017005917.1:c.2190G>A XP_016861406.1:p.Val730=
XM_024453405.1:c.2409G>A XP_024309173.1:p.Val803=
NM_138615.3:c.2307G>A MANE Select NP_619520.1:p.Val769=
NM_001330990.2:c.2223G>A NP_001317919.1:p.Val741=
NM_014966.4:c.2190G>A NP_055781.2:p.Val730=