Canonical Allele Identifier: CA8398206

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11937502G>T , CM000679.2:g.11937502G>T	GRCh38
NC_000017.10:g.11840819G>T , CM000679.1:g.11840819G>T	GRCh37
NC_000017.9:g.11781544G>T	NCBI36
NG_047047.1:g.344072G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.12640G>T MANE Select	NP_001363.2:p.Gly4214Cys
ENST00000262442.9:c.12640G>T MANE Select	ENSP00000262442.3:p.Gly4214Cys
NM_001372.3:c.12640G>T	NP_001363.2:p.Gly4214Cys
NM_004662.2:c.1576G>T	NP_004653.2:p.Gly526Cys
ENST00000262442.8:c.12640G>T	ENSP00000262442.3:p.Gly4214Cys
ENST00000396001.6:n.2103G>T
ENST00000454412.6:c.12412G>T	ENSP00000414874.2:p.Gly4138Cys
ENST00000608377.5:c.1576G>T	ENSP00000476951.1:p.Gly526Cys
XM_011523703.1:c.12640G>T	XP_011522005.1:p.Gly4214Cys
XM_011523703.2:c.12640G>T	XP_011522005.1:p.Gly4214Cys
XM_017024292.2:c.12523G>T	XP_016879781.1:p.Gly4175Cys
XM_017024293.1:c.10522G>T	XP_016879782.1:p.Gly3508Cys