Canonical Allele Identifier: CA352586594

Gene: DHX30

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47846544C>G , CM000665.2:g.47846544C>G	GRCh38
NC_000003.11:g.47888034C>G , CM000665.1:g.47888034C>G	GRCh37
NC_000003.10:g.47863038C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.1472C>G MANE Select	ENSP00000405620.1:p.Pro491Arg
ENST00000348968.8:c.1388C>G	ENSP00000343442.4:p.Pro463Arg
ENST00000395745.6:c.*1372C>G	ENSP00000379094.2:n.*1372C>G
ENST00000445061.5:c.1472C>G	ENSP00000405620.1:p.Pro491Arg
ENST00000446256.6:c.1472C>G	ENSP00000392601.3:p.Pro491Arg
ENST00000457607.1:c.1556C>G	ENSP00000394682.1:p.Pro519Arg
ENST00000619982.4:c.1355C>G	ENSP00000483160.1:p.Pro452Arg
NM_014966.3:c.1355C>G	NP_055781.2:p.Pro452Arg
NM_138615.2:c.1472C>G	NP_619520.1:p.Pro491Arg
XM_006713033.1:c.1376C>G	XP_006713096.1:p.Pro459Arg
XM_011533490.1:c.1685C>G	XP_011531792.1:p.Pro562Arg
XM_011533491.1:c.1685C>G	XP_011531793.1:p.Pro562Arg
XM_011533492.1:c.1685C>G	XP_011531794.1:p.Pro562Arg
XM_011533493.1:c.1574C>G	XP_011531795.1:p.Pro525Arg
XM_011533494.1:c.1472C>G	XP_011531796.1:p.Pro491Arg
XM_011533495.1:c.1472C>G	XP_011531797.1:p.Pro491Arg
XM_011533496.1:c.1388C>G	XP_011531798.1:p.Pro463Arg
XM_011533497.1:c.1388C>G	XP_011531799.1:p.Pro463Arg
XM_011533498.1:c.1388C>G	XP_011531800.1:p.Pro463Arg
NM_001330990.1:c.1388C>G	NP_001317919.1:p.Pro463Arg
XM_011533490.2:c.1685C>G	XP_011531792.1:p.Pro562Arg
XM_011533494.3:c.1472C>G	XP_011531796.1:p.Pro491Arg
XM_011533495.2:c.1472C>G	XP_011531797.1:p.Pro491Arg
XM_011533497.2:c.1388C>G	XP_011531799.1:p.Pro463Arg
XM_017005914.1:c.1604C>G	XP_016861403.1:p.Pro535Arg
XM_017005915.1:c.1376C>G	XP_016861404.1:p.Pro459Arg
XM_017005916.2:c.1361C>G	XP_016861405.1:p.Pro454Arg
XM_017005917.1:c.1355C>G	XP_016861406.1:p.Pro452Arg
XM_024453405.1:c.1574C>G	XP_024309173.1:p.Pro525Arg
NM_138615.3:c.1472C>G MANE Select	NP_619520.1:p.Pro491Arg
NM_001330990.2:c.1388C>G	NP_001317919.1:p.Pro463Arg
NM_014966.4:c.1355C>G	NP_055781.2:p.Pro452Arg