Canonical Allele Identifier: CA352590158
Gene: DHX30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47848195A>T , CM000665.2:g.47848195A>T GRCh38
NC_000003.11:g.47889685A>T , CM000665.1:g.47889685A>T GRCh37
NC_000003.10:g.47864689A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445061.6:c.2302A>T MANE Select ENSP00000405620.1:p.Thr768Ser
ENST00000348968.8:c.2218A>T ENSP00000343442.4:p.Thr740Ser
ENST00000395745.6:c.*2202A>T ENSP00000379094.2:n.*2202A>T
ENST00000445061.5:c.2302A>T ENSP00000405620.1:p.Thr768Ser
ENST00000446256.6:c.2302A>T ENSP00000392601.3:p.Thr768Ser
ENST00000457607.1:c.2386A>T ENSP00000394682.1:p.Thr796Ser
ENST00000474183.1:n.419A>T
ENST00000619982.4:c.2185A>T ENSP00000483160.1:p.Thr729Ser
NM_014966.3:c.2185A>T NP_055781.2:p.Thr729Ser
NM_138615.2:c.2302A>T NP_619520.1:p.Thr768Ser
XM_006713033.1:c.2206A>T XP_006713096.1:p.Thr736Ser
XM_011533490.1:c.2515A>T XP_011531792.1:p.Thr839Ser
XM_011533491.1:c.2515A>T XP_011531793.1:p.Thr839Ser
XM_011533492.1:c.2515A>T XP_011531794.1:p.Thr839Ser
XM_011533493.1:c.2404A>T XP_011531795.1:p.Thr802Ser
XM_011533494.1:c.2302A>T XP_011531796.1:p.Thr768Ser
XM_011533495.1:c.2302A>T XP_011531797.1:p.Thr768Ser
XM_011533496.1:c.2218A>T XP_011531798.1:p.Thr740Ser
XM_011533497.1:c.2218A>T XP_011531799.1:p.Thr740Ser
XM_011533498.1:c.2218A>T XP_011531800.1:p.Thr740Ser
NM_001330990.1:c.2218A>T NP_001317919.1:p.Thr740Ser
XM_011533490.2:c.2515A>T XP_011531792.1:p.Thr839Ser
XM_011533494.3:c.2302A>T XP_011531796.1:p.Thr768Ser
XM_011533495.2:c.2302A>T XP_011531797.1:p.Thr768Ser
XM_011533497.2:c.2218A>T XP_011531799.1:p.Thr740Ser
XM_017005914.1:c.2434A>T XP_016861403.1:p.Thr812Ser
XM_017005915.1:c.2206A>T XP_016861404.1:p.Thr736Ser
XM_017005916.2:c.2191A>T XP_016861405.1:p.Thr731Ser
XM_017005917.1:c.2185A>T XP_016861406.1:p.Thr729Ser
XM_024453405.1:c.2404A>T XP_024309173.1:p.Thr802Ser
NM_138615.3:c.2302A>T MANE Select NP_619520.1:p.Thr768Ser
NM_001330990.2:c.2218A>T NP_001317919.1:p.Thr740Ser
NM_014966.4:c.2185A>T NP_055781.2:p.Thr729Ser