Canonical Allele Identifier: CA433608749
Gene: DHX30 HGNC NCBI

Linked Data

gnomAD v4: 3-47848227-G-A
MyVariant Identifiers: chr3:g.47889717G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848227G>A , CM000665.2:g.47848227G>A GRCh38
NC_000003.11:g.47889717G>A , CM000665.1:g.47889717G>A GRCh37
NC_000003.10:g.47864721G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2334G>A MANE Select ENSP00000405620.1:p.Gln778=
ENST00000348968.8:c.2250G>A ENSP00000343442.4:p.Gln750=
ENST00000395745.6:c.*2234G>A ENSP00000379094.2:n.*2234G>A
ENST00000445061.5:c.2334G>A ENSP00000405620.1:p.Gln778=
ENST00000446256.6:c.2334G>A ENSP00000392601.3:p.Gln778=
ENST00000457607.1:c.2418G>A ENSP00000394682.1:p.Gln806=
ENST00000474183.1:n.451G>A
ENST00000619982.4:c.2217G>A ENSP00000483160.1:p.Gln739=
NM_014966.3:c.2217G>A NP_055781.2:p.Gln739=
NM_138615.2:c.2334G>A NP_619520.1:p.Gln778=
XM_006713033.1:c.2238G>A XP_006713096.1:p.Gln746=
XM_011533490.1:c.2547G>A XP_011531792.1:p.Gln849=
XM_011533491.1:c.2547G>A XP_011531793.1:p.Gln849=
XM_011533492.1:c.2547G>A XP_011531794.1:p.Gln849=
XM_011533493.1:c.2436G>A XP_011531795.1:p.Gln812=
XM_011533494.1:c.2334G>A XP_011531796.1:p.Gln778=
XM_011533495.1:c.2334G>A XP_011531797.1:p.Gln778=
XM_011533496.1:c.2250G>A XP_011531798.1:p.Gln750=
XM_011533497.1:c.2250G>A XP_011531799.1:p.Gln750=
XM_011533498.1:c.2250G>A XP_011531800.1:p.Gln750=
NM_001330990.1:c.2250G>A NP_001317919.1:p.Gln750=
XM_011533490.2:c.2547G>A XP_011531792.1:p.Gln849=
XM_011533494.3:c.2334G>A XP_011531796.1:p.Gln778=
XM_011533495.2:c.2334G>A XP_011531797.1:p.Gln778=
XM_011533497.2:c.2250G>A XP_011531799.1:p.Gln750=
XM_017005914.1:c.2466G>A XP_016861403.1:p.Gln822=
XM_017005915.1:c.2238G>A XP_016861404.1:p.Gln746=
XM_017005916.2:c.2223G>A XP_016861405.1:p.Gln741=
XM_017005917.1:c.2217G>A XP_016861406.1:p.Gln739=
XM_024453405.1:c.2436G>A XP_024309173.1:p.Gln812=
NM_138615.3:c.2334G>A MANE Select NP_619520.1:p.Gln778=
NM_001330990.2:c.2250G>A NP_001317919.1:p.Gln750=
NM_014966.4:c.2217G>A NP_055781.2:p.Gln739=