Canonical Allele Identifier: CA8398013

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11929909A>T , CM000679.2:g.11929909A>T	GRCh38
NC_000017.10:g.11833226A>T , CM000679.1:g.11833226A>T	GRCh37
NC_000017.9:g.11773951A>T	NCBI36
NG_047047.1:g.336479A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.11921A>T MANE Select	NP_001363.2:p.Lys3974Met
ENST00000262442.9:c.11921A>T MANE Select	ENSP00000262442.3:p.Lys3974Met
NM_001372.3:c.11921A>T	NP_001363.2:p.Lys3974Met
NM_004662.2:c.857A>T	NP_004653.2:p.Lys286Met
ENST00000262442.8:c.11921A>T	ENSP00000262442.3:p.Lys3974Met
ENST00000396001.6:n.1384A>T
ENST00000454412.6:c.11878-2105A>T	ENSP00000414874.2:n.11878-2105A>T
ENST00000608377.5:c.857A>T	ENSP00000476951.1:p.Lys286Met
XM_011523703.1:c.11921A>T	XP_011522005.1:p.Lys3974Met
XM_011523703.2:c.11921A>T	XP_011522005.1:p.Lys3974Met
XM_017024292.2:c.11804A>T	XP_016879781.1:p.Lys3935Met
XM_017024293.1:c.9803A>T	XP_016879782.1:p.Lys3268Met