Canonical Allele Identifier: CA352590493

Gene: DHX30

Linked Data

• dbSNP Id: rs745490648
• gnomAD v2: 3-47889765-G-C
• gnomAD v4: 3-47848275-G-C
• MyVariant Identifiers: chr3:g.47889765G>C (hg19) ; chr3:g.47848275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848275G>C , CM000665.2:g.47848275G>C	GRCh38
NC_000003.11:g.47889765G>C , CM000665.1:g.47889765G>C	GRCh37
NC_000003.10:g.47864769G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2382G>C MANE Select	ENSP00000405620.1:p.Leu794Phe
ENST00000348968.8:c.2298G>C	ENSP00000343442.4:p.Leu766Phe
ENST00000395745.6:c.*2282G>C	ENSP00000379094.2:n.*2282G>C
ENST00000445061.5:c.2382G>C	ENSP00000405620.1:p.Leu794Phe
ENST00000446256.6:c.2382G>C	ENSP00000392601.3:p.Leu794Phe
ENST00000457607.1:c.2466G>C	ENSP00000394682.1:p.Leu822Phe
ENST00000474183.1:n.499G>C
ENST00000619982.4:c.2265G>C	ENSP00000483160.1:p.Leu755Phe
NM_014966.3:c.2265G>C	NP_055781.2:p.Leu755Phe
NM_138615.2:c.2382G>C	NP_619520.1:p.Leu794Phe
XM_006713033.1:c.2286G>C	XP_006713096.1:p.Leu762Phe
XM_011533490.1:c.2595G>C	XP_011531792.1:p.Leu865Phe
XM_011533491.1:c.2595G>C	XP_011531793.1:p.Leu865Phe
XM_011533492.1:c.2595G>C	XP_011531794.1:p.Leu865Phe
XM_011533493.1:c.2484G>C	XP_011531795.1:p.Leu828Phe
XM_011533494.1:c.2382G>C	XP_011531796.1:p.Leu794Phe
XM_011533495.1:c.2382G>C	XP_011531797.1:p.Leu794Phe
XM_011533496.1:c.2298G>C	XP_011531798.1:p.Leu766Phe
XM_011533497.1:c.2298G>C	XP_011531799.1:p.Leu766Phe
XM_011533498.1:c.2298G>C	XP_011531800.1:p.Leu766Phe
NM_001330990.1:c.2298G>C	NP_001317919.1:p.Leu766Phe
XM_011533490.2:c.2595G>C	XP_011531792.1:p.Leu865Phe
XM_011533494.3:c.2382G>C	XP_011531796.1:p.Leu794Phe
XM_011533495.2:c.2382G>C	XP_011531797.1:p.Leu794Phe
XM_011533497.2:c.2298G>C	XP_011531799.1:p.Leu766Phe
XM_017005914.1:c.2514G>C	XP_016861403.1:p.Leu838Phe
XM_017005915.1:c.2286G>C	XP_016861404.1:p.Leu762Phe
XM_017005916.2:c.2271G>C	XP_016861405.1:p.Leu757Phe
XM_017005917.1:c.2265G>C	XP_016861406.1:p.Leu755Phe
XM_024453405.1:c.2484G>C	XP_024309173.1:p.Leu828Phe
NM_138615.3:c.2382G>C MANE Select	NP_619520.1:p.Leu794Phe
NM_001330990.2:c.2298G>C	NP_001317919.1:p.Leu766Phe
NM_014966.4:c.2265G>C	NP_055781.2:p.Leu755Phe