Canonical Allele Identifier: CA8398146

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11933988C>T , CM000679.2:g.11933988C>T	GRCh38
NC_000017.10:g.11837305C>T , CM000679.1:g.11837305C>T	GRCh37
NC_000017.9:g.11778030C>T	NCBI36
NG_047047.1:g.340558C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.12406C>T MANE Select	NP_001363.2:p.Arg4136Ter
ENST00000262442.9:c.12406C>T MANE Select	ENSP00000262442.3:p.Arg4136Ter
NM_001372.3:c.12406C>T	NP_001363.2:p.Arg4136Ter
NM_004662.2:c.1342C>T	NP_004653.2:p.Arg448Ter
ENST00000262442.8:c.12406C>T	ENSP00000262442.3:p.Arg4136Ter
ENST00000396001.6:n.1869C>T
ENST00000454412.6:c.12178C>T	ENSP00000414874.2:p.Arg4060Ter
ENST00000608377.5:c.1342C>T	ENSP00000476951.1:p.Arg448Ter
XM_011523703.1:c.12406C>T	XP_011522005.1:p.Arg4136Ter
XM_011523703.2:c.12406C>T	XP_011522005.1:p.Arg4136Ter
XM_017024292.2:c.12289C>T	XP_016879781.1:p.Arg4097Ter
XM_017024293.1:c.10288C>T	XP_016879782.1:p.Arg3430Ter