Canonical Allele Identifier: CA1362750214

Gene: DHX30

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848218T= , CM000665.2:g.47848218T=	GRCh38
NC_000003.11:g.47889708T= , CM000665.1:g.47889708T=	GRCh37
NC_000003.10:g.47864712T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2325T= MANE Select	ENSP00000405620.1:p.Asn775=
ENST00000348968.8:c.2241T=	ENSP00000343442.4:p.Asn747=
ENST00000395745.6:c.*2225T=	ENSP00000379094.2:n.*2225T=
ENST00000445061.5:c.2325T=	ENSP00000405620.1:p.Asn775=
ENST00000446256.6:c.2325T=	ENSP00000392601.3:p.Asn775=
ENST00000457607.1:c.2409T=	ENSP00000394682.1:p.Asn803=
ENST00000474183.1:n.442T=
ENST00000619982.4:c.2208T=	ENSP00000483160.1:p.Asn736=
NM_014966.3:c.2208T=	NP_055781.2:p.Asn736=
NM_138615.2:c.2325T=	NP_619520.1:p.Asn775=
XM_006713033.1:c.2229T=	XP_006713096.1:p.Asn743=
XM_011533490.1:c.2538T=	XP_011531792.1:p.Asn846=
XM_011533491.1:c.2538T=	XP_011531793.1:p.Asn846=
XM_011533492.1:c.2538T=	XP_011531794.1:p.Asn846=
XM_011533493.1:c.2427T=	XP_011531795.1:p.Asn809=
XM_011533494.1:c.2325T=	XP_011531796.1:p.Asn775=
XM_011533495.1:c.2325T=	XP_011531797.1:p.Asn775=
XM_011533496.1:c.2241T=	XP_011531798.1:p.Asn747=
XM_011533497.1:c.2241T=	XP_011531799.1:p.Asn747=
XM_011533498.1:c.2241T=	XP_011531800.1:p.Asn747=
NM_001330990.1:c.2241T=	NP_001317919.1:p.Asn747=
XM_011533490.2:c.2538T=	XP_011531792.1:p.Asn846=
XM_011533494.3:c.2325T=	XP_011531796.1:p.Asn775=
XM_011533495.2:c.2325T=	XP_011531797.1:p.Asn775=
XM_011533497.2:c.2241T=	XP_011531799.1:p.Asn747=
XM_017005914.1:c.2457T=	XP_016861403.1:p.Asn819=
XM_017005915.1:c.2229T=	XP_016861404.1:p.Asn743=
XM_017005916.2:c.2214T=	XP_016861405.1:p.Asn738=
XM_017005917.1:c.2208T=	XP_016861406.1:p.Asn736=
XM_024453405.1:c.2427T=	XP_024309173.1:p.Asn809=
NM_138615.3:c.2325T= MANE Select	NP_619520.1:p.Asn775=
NM_001330990.2:c.2241T=	NP_001317919.1:p.Asn747=
NM_014966.4:c.2208T=	NP_055781.2:p.Asn736=