Canonical Allele Identifier: CA2370106

Gene: DHX30

Linked Data

• dbSNP Id: rs766511972
• ExAC: 3:47889713 T / A
• gnomAD v2: 3-47889713-T-A
• gnomAD v3: 3-47848223-T-A
• gnomAD v4: 3-47848223-T-A
• MyVariant Identifiers: chr3:g.47889713T>A (hg19) ; chr3:g.47848223T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848223T>A , CM000665.2:g.47848223T>A	GRCh38
NC_000003.11:g.47889713T>A , CM000665.1:g.47889713T>A	GRCh37
NC_000003.10:g.47864717T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2330T>A MANE Select	ENSP00000405620.1:p.Ile777Asn
ENST00000348968.8:c.2246T>A	ENSP00000343442.4:p.Ile749Asn
ENST00000395745.6:c.*2230T>A	ENSP00000379094.2:n.*2230T>A
ENST00000445061.5:c.2330T>A	ENSP00000405620.1:p.Ile777Asn
ENST00000446256.6:c.2330T>A	ENSP00000392601.3:p.Ile777Asn
ENST00000457607.1:c.2414T>A	ENSP00000394682.1:p.Ile805Asn
ENST00000474183.1:n.447T>A
ENST00000619982.4:c.2213T>A	ENSP00000483160.1:p.Ile738Asn
NM_014966.3:c.2213T>A	NP_055781.2:p.Ile738Asn
NM_138615.2:c.2330T>A	NP_619520.1:p.Ile777Asn
XM_006713033.1:c.2234T>A	XP_006713096.1:p.Ile745Asn
XM_011533490.1:c.2543T>A	XP_011531792.1:p.Ile848Asn
XM_011533491.1:c.2543T>A	XP_011531793.1:p.Ile848Asn
XM_011533492.1:c.2543T>A	XP_011531794.1:p.Ile848Asn
XM_011533493.1:c.2432T>A	XP_011531795.1:p.Ile811Asn
XM_011533494.1:c.2330T>A	XP_011531796.1:p.Ile777Asn
XM_011533495.1:c.2330T>A	XP_011531797.1:p.Ile777Asn
XM_011533496.1:c.2246T>A	XP_011531798.1:p.Ile749Asn
XM_011533497.1:c.2246T>A	XP_011531799.1:p.Ile749Asn
XM_011533498.1:c.2246T>A	XP_011531800.1:p.Ile749Asn
NM_001330990.1:c.2246T>A	NP_001317919.1:p.Ile749Asn
XM_011533490.2:c.2543T>A	XP_011531792.1:p.Ile848Asn
XM_011533494.3:c.2330T>A	XP_011531796.1:p.Ile777Asn
XM_011533495.2:c.2330T>A	XP_011531797.1:p.Ile777Asn
XM_011533497.2:c.2246T>A	XP_011531799.1:p.Ile749Asn
XM_017005914.1:c.2462T>A	XP_016861403.1:p.Ile821Asn
XM_017005915.1:c.2234T>A	XP_016861404.1:p.Ile745Asn
XM_017005916.2:c.2219T>A	XP_016861405.1:p.Ile740Asn
XM_017005917.1:c.2213T>A	XP_016861406.1:p.Ile738Asn
XM_024453405.1:c.2432T>A	XP_024309173.1:p.Ile811Asn
NM_138615.3:c.2330T>A MANE Select	NP_619520.1:p.Ile777Asn
NM_001330990.2:c.2246T>A	NP_001317919.1:p.Ile749Asn
NM_014966.4:c.2213T>A	NP_055781.2:p.Ile738Asn