Canonical Allele Identifier: CA398203088

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11902911C>T , CM000679.2:g.11902911C>T	GRCh38
NC_000017.10:g.11806228C>T , CM000679.1:g.11806228C>T	GRCh37
NC_000017.9:g.11746953C>T	NCBI36
NG_047047.1:g.309481C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.11599C>T MANE Select	NP_001363.2:p.Arg3867Ter
ENST00000262442.9:c.11599C>T MANE Select	ENSP00000262442.3:p.Arg3867Ter
NM_001372.3:c.11599C>T	NP_001363.2:p.Arg3867Ter
NM_004662.2:c.535C>T	NP_004653.2:p.Arg179Ter
ENST00000262442.8:c.11599C>T	ENSP00000262442.3:p.Arg3867Ter
ENST00000396001.6:n.1062C>T
ENST00000454412.6:c.11599C>T	ENSP00000414874.2:p.Arg3867Ter
ENST00000581682.1:n.880C>T
ENST00000608377.5:c.535C>T	ENSP00000476951.1:p.Arg179Ter
XM_011523703.1:c.11599C>T	XP_011522005.1:p.Arg3867Ter
XM_011523703.2:c.11599C>T	XP_011522005.1:p.Arg3867Ter
XM_017024292.2:c.11482C>T	XP_016879781.1:p.Arg3828Ter
XM_017024293.1:c.9481C>T	XP_016879782.1:p.Arg3161Ter