Canonical Allele Identifier: CA8397758
Community Standard Title: NM_001372.4(DNAH9):c.11176C>T (p.Arg3726Trp)
Gene: DNAH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.11891840C>T , CM000679.2:g.11891840C>T GRCh38
NC_000017.10:g.11795157C>T , CM000679.1:g.11795157C>T GRCh37
NC_000017.9:g.11735882C>T NCBI36
NG_047047.1:g.298410C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001372.4:c.11176C>T MANE Select NP_001363.2:p.Arg3726Trp
ENST00000262442.9:c.11176C>T MANE Select ENSP00000262442.3:p.Arg3726Trp
NM_001372.3:c.11176C>T NP_001363.2:p.Arg3726Trp
NM_004662.2:c.112C>T NP_004653.2:p.Arg38Trp
ENST00000262442.8:c.11176C>T ENSP00000262442.3:p.Arg3726Trp
ENST00000396001.6:n.639C>T
ENST00000454412.6:c.11176C>T ENSP00000414874.2:p.Arg3726Trp
ENST00000581682.1:n.457C>T
ENST00000608377.5:c.112C>T ENSP00000476951.1:p.Arg38Trp
XM_011523703.1:c.11176C>T XP_011522005.1:p.Arg3726Trp
XM_011523703.2:c.11176C>T XP_011522005.1:p.Arg3726Trp
XM_017024292.2:c.11059C>T XP_016879781.1:p.Arg3687Trp
XM_017024293.1:c.9058C>T XP_016879782.1:p.Arg3020Trp