Canonical Allele Identifier: CA398213407

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11933949G>A , CM000679.2:g.11933949G>A	GRCh38
NC_000017.10:g.11837266G>A , CM000679.1:g.11837266G>A	GRCh37
NC_000017.9:g.11777991G>A	NCBI36
NG_047047.1:g.340519G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.12367G>A MANE Select	NP_001363.2:p.Asp4123Asn
ENST00000262442.9:c.12367G>A MANE Select	ENSP00000262442.3:p.Asp4123Asn
NM_001372.3:c.12367G>A	NP_001363.2:p.Asp4123Asn
NM_004662.2:c.1303G>A	NP_004653.2:p.Asp435Asn
ENST00000262442.8:c.12367G>A	ENSP00000262442.3:p.Asp4123Asn
ENST00000396001.6:n.1830G>A
ENST00000454412.6:c.12139G>A	ENSP00000414874.2:p.Asp4047Asn
ENST00000608377.5:c.1303G>A	ENSP00000476951.1:p.Asp435Asn
XM_011523703.1:c.12367G>A	XP_011522005.1:p.Asp4123Asn
XM_011523703.2:c.12367G>A	XP_011522005.1:p.Asp4123Asn
XM_017024292.2:c.12250G>A	XP_016879781.1:p.Asp4084Asn
XM_017024293.1:c.10249G>A	XP_016879782.1:p.Asp3417Asn