Canonical Allele Identifier: CA352590329

Gene: DHX30

Linked Data

• ClinVar Variation Id: 2444127
• ClinVar RCV Id: RCV003152925
• MyVariant Identifiers: chr3:g.47889728G>C (hg19) ; chr3:g.47848238G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848238G>C , CM000665.2:g.47848238G>C	GRCh38
NC_000003.11:g.47889728G>C , CM000665.1:g.47889728G>C	GRCh37
NC_000003.10:g.47864732G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2345G>C MANE Select	ENSP00000405620.1:p.Arg782Pro
ENST00000348968.8:c.2261G>C	ENSP00000343442.4:p.Arg754Pro
ENST00000395745.6:c.*2245G>C	ENSP00000379094.2:n.*2245G>C
ENST00000445061.5:c.2345G>C	ENSP00000405620.1:p.Arg782Pro
ENST00000446256.6:c.2345G>C	ENSP00000392601.3:p.Arg782Pro
ENST00000457607.1:c.2429G>C	ENSP00000394682.1:p.Arg810Pro
ENST00000474183.1:n.462G>C
ENST00000619982.4:c.2228G>C	ENSP00000483160.1:p.Arg743Pro
NM_014966.3:c.2228G>C	NP_055781.2:p.Arg743Pro
NM_138615.2:c.2345G>C	NP_619520.1:p.Arg782Pro
XM_006713033.1:c.2249G>C	XP_006713096.1:p.Arg750Pro
XM_011533490.1:c.2558G>C	XP_011531792.1:p.Arg853Pro
XM_011533491.1:c.2558G>C	XP_011531793.1:p.Arg853Pro
XM_011533492.1:c.2558G>C	XP_011531794.1:p.Arg853Pro
XM_011533493.1:c.2447G>C	XP_011531795.1:p.Arg816Pro
XM_011533494.1:c.2345G>C	XP_011531796.1:p.Arg782Pro
XM_011533495.1:c.2345G>C	XP_011531797.1:p.Arg782Pro
XM_011533496.1:c.2261G>C	XP_011531798.1:p.Arg754Pro
XM_011533497.1:c.2261G>C	XP_011531799.1:p.Arg754Pro
XM_011533498.1:c.2261G>C	XP_011531800.1:p.Arg754Pro
NM_001330990.1:c.2261G>C	NP_001317919.1:p.Arg754Pro
XM_011533490.2:c.2558G>C	XP_011531792.1:p.Arg853Pro
XM_011533494.3:c.2345G>C	XP_011531796.1:p.Arg782Pro
XM_011533495.2:c.2345G>C	XP_011531797.1:p.Arg782Pro
XM_011533497.2:c.2261G>C	XP_011531799.1:p.Arg754Pro
XM_017005914.1:c.2477G>C	XP_016861403.1:p.Arg826Pro
XM_017005915.1:c.2249G>C	XP_016861404.1:p.Arg750Pro
XM_017005916.2:c.2234G>C	XP_016861405.1:p.Arg745Pro
XM_017005917.1:c.2228G>C	XP_016861406.1:p.Arg743Pro
XM_024453405.1:c.2447G>C	XP_024309173.1:p.Arg816Pro
NM_138615.3:c.2345G>C MANE Select	NP_619520.1:p.Arg782Pro
NM_001330990.2:c.2261G>C	NP_001317919.1:p.Arg754Pro
NM_014966.4:c.2228G>C	NP_055781.2:p.Arg743Pro