Canonical Allele Identifier: CA352590632

Gene: DHX30

Linked Data

• dbSNP Id: rs2037707905
• MyVariant Identifiers: chr3:g.47889797C>G (hg19) ; chr3:g.47848307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848307C>G , CM000665.2:g.47848307C>G	GRCh38
NC_000003.11:g.47889797C>G , CM000665.1:g.47889797C>G	GRCh37
NC_000003.10:g.47864801C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2414C>G MANE Select	ENSP00000405620.1:p.Pro805Arg
ENST00000348968.8:c.2330C>G	ENSP00000343442.4:p.Pro777Arg
ENST00000395745.6:c.*2314C>G	ENSP00000379094.2:n.*2314C>G
ENST00000445061.5:c.2414C>G	ENSP00000405620.1:p.Pro805Arg
ENST00000446256.6:c.2414C>G	ENSP00000392601.3:p.Pro805Arg
ENST00000457607.1:c.2498C>G	ENSP00000394682.1:p.Pro833Arg
ENST00000474183.1:n.531C>G
ENST00000619982.4:c.2297C>G	ENSP00000483160.1:p.Pro766Arg
NM_014966.3:c.2297C>G	NP_055781.2:p.Pro766Arg
NM_138615.2:c.2414C>G	NP_619520.1:p.Pro805Arg
XM_006713033.1:c.2318C>G	XP_006713096.1:p.Pro773Arg
XM_011533490.1:c.2627C>G	XP_011531792.1:p.Pro876Arg
XM_011533491.1:c.2627C>G	XP_011531793.1:p.Pro876Arg
XM_011533492.1:c.2627C>G	XP_011531794.1:p.Pro876Arg
XM_011533493.1:c.2516C>G	XP_011531795.1:p.Pro839Arg
XM_011533494.1:c.2414C>G	XP_011531796.1:p.Pro805Arg
XM_011533495.1:c.2414C>G	XP_011531797.1:p.Pro805Arg
XM_011533496.1:c.2330C>G	XP_011531798.1:p.Pro777Arg
XM_011533497.1:c.2330C>G	XP_011531799.1:p.Pro777Arg
XM_011533498.1:c.2330C>G	XP_011531800.1:p.Pro777Arg
NM_001330990.1:c.2330C>G	NP_001317919.1:p.Pro777Arg
XM_011533490.2:c.2627C>G	XP_011531792.1:p.Pro876Arg
XM_011533494.3:c.2414C>G	XP_011531796.1:p.Pro805Arg
XM_011533495.2:c.2414C>G	XP_011531797.1:p.Pro805Arg
XM_011533497.2:c.2330C>G	XP_011531799.1:p.Pro777Arg
XM_017005914.1:c.2546C>G	XP_016861403.1:p.Pro849Arg
XM_017005915.1:c.2318C>G	XP_016861404.1:p.Pro773Arg
XM_017005916.2:c.2303C>G	XP_016861405.1:p.Pro768Arg
XM_017005917.1:c.2297C>G	XP_016861406.1:p.Pro766Arg
XM_024453405.1:c.2516C>G	XP_024309173.1:p.Pro839Arg
NM_138615.3:c.2414C>G MANE Select	NP_619520.1:p.Pro805Arg
NM_001330990.2:c.2330C>G	NP_001317919.1:p.Pro777Arg
NM_014966.4:c.2297C>G	NP_055781.2:p.Pro766Arg