Canonical Allele Identifier: CA352590173

Gene: DHX30

Linked Data

• dbSNP Id: rs1175591677
• gnomAD v2: 3-47889691-T-C
• MyVariant Identifiers: chr3:g.47889691T>C (hg19) ; chr3:g.47848201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848201T>C , CM000665.2:g.47848201T>C	GRCh38
NC_000003.11:g.47889691T>C , CM000665.1:g.47889691T>C	GRCh37
NC_000003.10:g.47864695T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2308T>C MANE Select	ENSP00000405620.1:p.Trp770Arg
ENST00000348968.8:c.2224T>C	ENSP00000343442.4:p.Trp742Arg
ENST00000395745.6:c.*2208T>C	ENSP00000379094.2:n.*2208T>C
ENST00000445061.5:c.2308T>C	ENSP00000405620.1:p.Trp770Arg
ENST00000446256.6:c.2308T>C	ENSP00000392601.3:p.Trp770Arg
ENST00000457607.1:c.2392T>C	ENSP00000394682.1:p.Trp798Arg
ENST00000474183.1:n.425T>C
ENST00000619982.4:c.2191T>C	ENSP00000483160.1:p.Trp731Arg
NM_014966.3:c.2191T>C	NP_055781.2:p.Trp731Arg
NM_138615.2:c.2308T>C	NP_619520.1:p.Trp770Arg
XM_006713033.1:c.2212T>C	XP_006713096.1:p.Trp738Arg
XM_011533490.1:c.2521T>C	XP_011531792.1:p.Trp841Arg
XM_011533491.1:c.2521T>C	XP_011531793.1:p.Trp841Arg
XM_011533492.1:c.2521T>C	XP_011531794.1:p.Trp841Arg
XM_011533493.1:c.2410T>C	XP_011531795.1:p.Trp804Arg
XM_011533494.1:c.2308T>C	XP_011531796.1:p.Trp770Arg
XM_011533495.1:c.2308T>C	XP_011531797.1:p.Trp770Arg
XM_011533496.1:c.2224T>C	XP_011531798.1:p.Trp742Arg
XM_011533497.1:c.2224T>C	XP_011531799.1:p.Trp742Arg
XM_011533498.1:c.2224T>C	XP_011531800.1:p.Trp742Arg
NM_001330990.1:c.2224T>C	NP_001317919.1:p.Trp742Arg
XM_011533490.2:c.2521T>C	XP_011531792.1:p.Trp841Arg
XM_011533494.3:c.2308T>C	XP_011531796.1:p.Trp770Arg
XM_011533495.2:c.2308T>C	XP_011531797.1:p.Trp770Arg
XM_011533497.2:c.2224T>C	XP_011531799.1:p.Trp742Arg
XM_017005914.1:c.2440T>C	XP_016861403.1:p.Trp814Arg
XM_017005915.1:c.2212T>C	XP_016861404.1:p.Trp738Arg
XM_017005916.2:c.2197T>C	XP_016861405.1:p.Trp733Arg
XM_017005917.1:c.2191T>C	XP_016861406.1:p.Trp731Arg
XM_024453405.1:c.2410T>C	XP_024309173.1:p.Trp804Arg
NM_138615.3:c.2308T>C MANE Select	NP_619520.1:p.Trp770Arg
NM_001330990.2:c.2224T>C	NP_001317919.1:p.Trp742Arg
NM_014966.4:c.2191T>C	NP_055781.2:p.Trp731Arg