Canonical Allele Identifier: CA8160635
Community Standard Title: NM_014003.4(DHX38):c.2380-20T>C
Gene: DHX38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72105497T>C , CM000678.2:g.72105497T>C GRCh38
NC_000016.9:g.72139396T>C , CM000678.1:g.72139396T>C GRCh37
NC_000016.8:g.70696897T>C NCBI36
NG_034207.1:g.16782T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014003.4:c.2380-20T>C MANE Select NP_054722.2:n.2380-20T>C
ENST00000268482.8:c.2380-20T>C MANE Select ENSP00000268482.3:n.2380-20T>C
NM_014003.3:c.2380-20T>C NP_054722.2:n.2380-20T>C
ENST00000268482.7:c.2380-20T>C ENSP00000268482.3:n.2380-20T>C
ENST00000562774.1:c.312+206T>C ENSP00000462965.1:n.312+206T>C
ENST00000579387.5:c.324-20T>C ENSP00000462149.1:n.324-20T>C
XM_005256269.1:c.2275-20T>C XP_005256326.1:n.2275-20T>C
XM_005256269.2:c.2275-20T>C XP_005256326.1:n.2275-20T>C
XM_011523484.1:c.2380-20T>C XP_011521786.1:n.2380-20T>C
XM_011523484.2:c.2380-20T>C XP_011521786.1:n.2380-20T>C
XM_011523485.1:c.2380-20T>C XP_011521787.1:n.2380-20T>C
XM_017023913.2:c.2275-20T>C XP_016879402.1:n.2275-20T>C
XR_429741.1:n.2662-20T>C
XR_429741.3:n.2556-20T>C