Canonical Allele Identifier: CA398194428

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11752891G>A , CM000679.2:g.11752891G>A	GRCh38
NC_000017.10:g.11656208G>A , CM000679.1:g.11656208G>A	GRCh37
NC_000017.9:g.11596933G>A	NCBI36
NG_047047.1:g.159461G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.6669G>A MANE Select	NP_001363.2:p.Trp2223Ter
ENST00000262442.9:c.6669G>A MANE Select	ENSP00000262442.3:p.Trp2223Ter
NM_001372.3:c.6669G>A	NP_001363.2:p.Trp2223Ter
ENST00000262442.8:c.6669G>A	ENSP00000262442.3:p.Trp2223Ter
ENST00000454412.6:c.6669G>A	ENSP00000414874.2:p.Trp2223Ter
XM_011523703.1:c.6669G>A	XP_011522005.1:p.Trp2223Ter
XM_011523703.2:c.6669G>A	XP_011522005.1:p.Trp2223Ter
XM_017024292.2:c.6552G>A	XP_016879781.1:p.Trp2184Ter
XM_017024293.1:c.4551G>A	XP_016879782.1:p.Trp1517Ter
XM_017024294.2:c.6669G>A	XP_016879783.1:p.Trp2223Ter
XM_017024295.2:c.6669G>A	XP_016879784.1:p.Trp2223Ter