Canonical Allele Identifier: CA352590654

Gene: DHX30

Linked Data

• gnomAD v4: 3-47848312-C-T
• MyVariant Identifiers: chr3:g.47889802C>T (hg19) ; chr3:g.47848312C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848312C>T , CM000665.2:g.47848312C>T	GRCh38
NC_000003.11:g.47889802C>T , CM000665.1:g.47889802C>T	GRCh37
NC_000003.10:g.47864806C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2419C>T MANE Select	ENSP00000405620.1:p.Gln807Ter
ENST00000348968.8:c.2335C>T	ENSP00000343442.4:p.Gln779Ter
ENST00000395745.6:c.*2319C>T	ENSP00000379094.2:n.*2319C>T
ENST00000445061.5:c.2419C>T	ENSP00000405620.1:p.Gln807Ter
ENST00000446256.6:c.2419C>T	ENSP00000392601.3:p.Gln807Ter
ENST00000457607.1:c.2503C>T	ENSP00000394682.1:p.Gln835Ter
ENST00000474183.1:n.536C>T
ENST00000619982.4:c.2302C>T	ENSP00000483160.1:p.Gln768Ter
NM_014966.3:c.2302C>T	NP_055781.2:p.Gln768Ter
NM_138615.2:c.2419C>T	NP_619520.1:p.Gln807Ter
XM_006713033.1:c.2323C>T	XP_006713096.1:p.Gln775Ter
XM_011533490.1:c.2632C>T	XP_011531792.1:p.Gln878Ter
XM_011533491.1:c.2632C>T	XP_011531793.1:p.Gln878Ter
XM_011533492.1:c.2632C>T	XP_011531794.1:p.Gln878Ter
XM_011533493.1:c.2521C>T	XP_011531795.1:p.Gln841Ter
XM_011533494.1:c.2419C>T	XP_011531796.1:p.Gln807Ter
XM_011533495.1:c.2419C>T	XP_011531797.1:p.Gln807Ter
XM_011533496.1:c.2335C>T	XP_011531798.1:p.Gln779Ter
XM_011533497.1:c.2335C>T	XP_011531799.1:p.Gln779Ter
XM_011533498.1:c.2335C>T	XP_011531800.1:p.Gln779Ter
NM_001330990.1:c.2335C>T	NP_001317919.1:p.Gln779Ter
XM_011533490.2:c.2632C>T	XP_011531792.1:p.Gln878Ter
XM_011533494.3:c.2419C>T	XP_011531796.1:p.Gln807Ter
XM_011533495.2:c.2419C>T	XP_011531797.1:p.Gln807Ter
XM_011533497.2:c.2335C>T	XP_011531799.1:p.Gln779Ter
XM_017005914.1:c.2551C>T	XP_016861403.1:p.Gln851Ter
XM_017005915.1:c.2323C>T	XP_016861404.1:p.Gln775Ter
XM_017005916.2:c.2308C>T	XP_016861405.1:p.Gln770Ter
XM_017005917.1:c.2302C>T	XP_016861406.1:p.Gln768Ter
XM_024453405.1:c.2521C>T	XP_024309173.1:p.Gln841Ter
NM_138615.3:c.2419C>T MANE Select	NP_619520.1:p.Gln807Ter
NM_001330990.2:c.2335C>T	NP_001317919.1:p.Gln779Ter
NM_014966.4:c.2302C>T	NP_055781.2:p.Gln768Ter