Canonical Allele Identifier: CA396712070
Community Standard Title: NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser)
Gene: DHX38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72105298C>T , CM000678.2:g.72105298C>T GRCh38
NC_000016.9:g.72139197C>T , CM000678.1:g.72139197C>T GRCh37
NC_000016.8:g.70696698C>T NCBI36
NG_034207.1:g.16583C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014003.4:c.2329C>T MANE Select NP_054722.2:p.Pro777Ser
ENST00000268482.8:c.2329C>T MANE Select ENSP00000268482.3:p.Pro777Ser
NM_014003.3:c.2329C>T NP_054722.2:p.Pro777Ser
ENST00000268482.7:c.2329C>T ENSP00000268482.3:p.Pro777Ser
ENST00000562774.1:c.312+7C>T ENSP00000462965.1:n.312+7C>T
ENST00000579387.5:c.324-219C>T ENSP00000462149.1:n.324-219C>T
XM_005256269.1:c.2224C>T XP_005256326.1:p.Pro742Ser
XM_005256269.2:c.2224C>T XP_005256326.1:p.Pro742Ser
XM_011523484.1:c.2329C>T XP_011521786.1:p.Pro777Ser
XM_011523484.2:c.2329C>T XP_011521786.1:p.Pro777Ser
XM_011523485.1:c.2329C>T XP_011521787.1:p.Pro777Ser
XM_017023913.2:c.2224C>T XP_016879402.1:p.Pro742Ser
XR_429741.1:n.2611C>T
XR_429741.3:n.2505C>T