Canonical Allele Identifier: CA8394455
Community Standard Title: NM_001372.4(DNAH9):c.72A>C (p.Arg24=)
Gene: DNAH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.11598570A>C , CM000679.2:g.11598570A>C GRCh38
NC_000017.10:g.11501887A>C , CM000679.1:g.11501887A>C GRCh37
NC_000017.9:g.11442612A>C NCBI36
NG_047047.1:g.5140A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001372.4:c.72A>C MANE Select NP_001363.2:p.Arg24=
ENST00000262442.9:c.72A>C MANE Select ENSP00000262442.3:p.Arg24=
NM_001372.3:c.72A>C NP_001363.2:p.Arg24=
ENST00000262442.8:c.72A>C ENSP00000262442.3:p.Arg24=
ENST00000454412.6:c.72A>C ENSP00000414874.2:p.Arg24=
ENST00000579406.1:n.99A>C
ENST00000579828.5:c.72A>C ENSP00000463782.1:p.Arg24=
XM_011523703.1:c.72A>C XP_011522005.1:p.Arg24=
XM_011523703.2:c.72A>C XP_011522005.1:p.Arg24=
XM_017024292.2:c.72A>C XP_016879781.1:p.Arg24=
XM_017024294.2:c.72A>C XP_016879783.1:p.Arg24=
XM_017024295.2:c.72A>C XP_016879784.1:p.Arg24=