Canonical Allele Identifier: CA398186935
Community Standard Title: NM_001372.4(DNAH9):c.4234C>T (p.Gln1412Ter)
Gene: DNAH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.11690056C>T , CM000679.2:g.11690056C>T GRCh38
NC_000017.10:g.11593373C>T , CM000679.1:g.11593373C>T GRCh37
NC_000017.9:g.11534098C>T NCBI36
NG_047047.1:g.96626C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001372.4:c.4234C>T MANE Select NP_001363.2:p.Gln1412Ter
ENST00000262442.9:c.4234C>T MANE Select ENSP00000262442.3:p.Gln1412Ter
NM_001372.3:c.4234C>T NP_001363.2:p.Gln1412Ter
ENST00000262442.8:c.4234C>T ENSP00000262442.3:p.Gln1412Ter
ENST00000454412.6:c.4234C>T ENSP00000414874.2:p.Gln1412Ter
XM_011523703.1:c.4234C>T XP_011522005.1:p.Gln1412Ter
XM_011523703.2:c.4234C>T XP_011522005.1:p.Gln1412Ter
XM_017024292.2:c.4117C>T XP_016879781.1:p.Gln1373Ter
XM_017024293.1:c.2116C>T XP_016879782.1:p.Gln706Ter
XM_017024294.2:c.4234C>T XP_016879783.1:p.Gln1412Ter
XM_017024295.2:c.4234C>T XP_016879784.1:p.Gln1412Ter