Canonical Allele Identifier: CA8395031

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11644673T>G , CM000679.2:g.11644673T>G	GRCh38
NC_000017.10:g.11547990T>G , CM000679.1:g.11547990T>G	GRCh37
NC_000017.9:g.11488715T>G	NCBI36
NG_047047.1:g.51243T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.1944T>G MANE Select	NP_001363.2:p.Tyr648Ter
ENST00000262442.9:c.1944T>G MANE Select	ENSP00000262442.3:p.Tyr648Ter
NM_001372.3:c.1944T>G	NP_001363.2:p.Tyr648Ter
ENST00000262442.8:c.1944T>G	ENSP00000262442.3:p.Tyr648Ter
ENST00000454412.6:c.1944T>G	ENSP00000414874.2:p.Tyr648Ter
XM_011523703.1:c.1944T>G	XP_011522005.1:p.Tyr648Ter
XM_011523703.2:c.1944T>G	XP_011522005.1:p.Tyr648Ter
XM_017024292.2:c.1827T>G	XP_016879781.1:p.Tyr609Ter
XM_017024293.1:c.-22+4289T>G	XP_016879782.1:n.-22+4289T>G
XM_017024294.2:c.1944T>G	XP_016879783.1:p.Tyr648Ter
XM_017024295.2:c.1944T>G	XP_016879784.1:p.Tyr648Ter