Canonical Allele Identifier: CA8395588

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11689852C>T , CM000679.2:g.11689852C>T	GRCh38
NC_000017.10:g.11593169C>T , CM000679.1:g.11593169C>T	GRCh37
NC_000017.9:g.11533894C>T	NCBI36
NG_047047.1:g.96422C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.4030C>T MANE Select	NP_001363.2:p.Arg1344Ter
ENST00000262442.9:c.4030C>T MANE Select	ENSP00000262442.3:p.Arg1344Ter
NM_001372.3:c.4030C>T	NP_001363.2:p.Arg1344Ter
ENST00000262442.8:c.4030C>T	ENSP00000262442.3:p.Arg1344Ter
ENST00000454412.6:c.4030C>T	ENSP00000414874.2:p.Arg1344Ter
XM_011523703.1:c.4030C>T	XP_011522005.1:p.Arg1344Ter
XM_011523703.2:c.4030C>T	XP_011522005.1:p.Arg1344Ter
XM_017024292.2:c.3913C>T	XP_016879781.1:p.Arg1305Ter
XM_017024293.1:c.1912C>T	XP_016879782.1:p.Arg638Ter
XM_017024294.2:c.4030C>T	XP_016879783.1:p.Arg1344Ter
XM_017024295.2:c.4030C>T	XP_016879784.1:p.Arg1344Ter