Canonical Allele Identifier: CA398196458

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11871737G>T , CM000679.2:g.11871737G>T	GRCh38
NC_000017.10:g.11775054G>T , CM000679.1:g.11775054G>T	GRCh37
NC_000017.9:g.11715779G>T	NCBI36
NG_047047.1:g.278307G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.10193G>T MANE Select	NP_001363.2:p.Arg3398Leu
ENST00000262442.9:c.10193G>T MANE Select	ENSP00000262442.3:p.Arg3398Leu
NM_001372.3:c.10193G>T	NP_001363.2:p.Arg3398Leu
ENST00000262442.8:c.10193G>T	ENSP00000262442.3:p.Arg3398Leu
ENST00000454412.6:c.10193G>T	ENSP00000414874.2:p.Arg3398Leu
ENST00000579703.1:c.495+2484G>T	ENSP00000463622.2:n.495+2484G>T
XM_011523703.1:c.10193G>T	XP_011522005.1:p.Arg3398Leu
XM_011523703.2:c.10193G>T	XP_011522005.1:p.Arg3398Leu
XM_017024292.2:c.10076G>T	XP_016879781.1:p.Arg3359Leu
XM_017024293.1:c.8075G>T	XP_016879782.1:p.Arg2692Leu
XR_934228.1:n.245+3985C>A
XR_934228.2:n.245+3985C>A