Canonical Allele Identifier: CA352590644
Gene: DHX30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848310T>C , CM000665.2:g.47848310T>C GRCh38
NC_000003.11:g.47889800T>C , CM000665.1:g.47889800T>C GRCh37
NC_000003.10:g.47864804T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2417T>C MANE Select ENSP00000405620.1:p.Phe806Ser
ENST00000348968.8:c.2333T>C ENSP00000343442.4:p.Phe778Ser
ENST00000395745.6:c.*2317T>C ENSP00000379094.2:n.*2317T>C
ENST00000445061.5:c.2417T>C ENSP00000405620.1:p.Phe806Ser
ENST00000446256.6:c.2417T>C ENSP00000392601.3:p.Phe806Ser
ENST00000457607.1:c.2501T>C ENSP00000394682.1:p.Phe834Ser
ENST00000474183.1:n.534T>C
ENST00000619982.4:c.2300T>C ENSP00000483160.1:p.Phe767Ser
NM_014966.3:c.2300T>C NP_055781.2:p.Phe767Ser
NM_138615.2:c.2417T>C NP_619520.1:p.Phe806Ser
XM_006713033.1:c.2321T>C XP_006713096.1:p.Phe774Ser
XM_011533490.1:c.2630T>C XP_011531792.1:p.Phe877Ser
XM_011533491.1:c.2630T>C XP_011531793.1:p.Phe877Ser
XM_011533492.1:c.2630T>C XP_011531794.1:p.Phe877Ser
XM_011533493.1:c.2519T>C XP_011531795.1:p.Phe840Ser
XM_011533494.1:c.2417T>C XP_011531796.1:p.Phe806Ser
XM_011533495.1:c.2417T>C XP_011531797.1:p.Phe806Ser
XM_011533496.1:c.2333T>C XP_011531798.1:p.Phe778Ser
XM_011533497.1:c.2333T>C XP_011531799.1:p.Phe778Ser
XM_011533498.1:c.2333T>C XP_011531800.1:p.Phe778Ser
NM_001330990.1:c.2333T>C NP_001317919.1:p.Phe778Ser
XM_011533490.2:c.2630T>C XP_011531792.1:p.Phe877Ser
XM_011533494.3:c.2417T>C XP_011531796.1:p.Phe806Ser
XM_011533495.2:c.2417T>C XP_011531797.1:p.Phe806Ser
XM_011533497.2:c.2333T>C XP_011531799.1:p.Phe778Ser
XM_017005914.1:c.2549T>C XP_016861403.1:p.Phe850Ser
XM_017005915.1:c.2321T>C XP_016861404.1:p.Phe774Ser
XM_017005916.2:c.2306T>C XP_016861405.1:p.Phe769Ser
XM_017005917.1:c.2300T>C XP_016861406.1:p.Phe767Ser
XM_024453405.1:c.2519T>C XP_024309173.1:p.Phe840Ser
NM_138615.3:c.2417T>C MANE Select NP_619520.1:p.Phe806Ser
NM_001330990.2:c.2333T>C NP_001317919.1:p.Phe778Ser
NM_014966.4:c.2300T>C NP_055781.2:p.Phe767Ser