Canonical Allele Identifier: CA8397051

Gene: DNAH9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11822051C>T , CM000679.2:g.11822051C>T	GRCh38
NC_000017.10:g.11725368C>T , CM000679.1:g.11725368C>T	GRCh37
NC_000017.9:g.11666093C>T	NCBI36
NG_047047.1:g.228621C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372.4:c.8839C>T MANE Select	NP_001363.2:p.Arg2947Ter
ENST00000262442.9:c.8839C>T MANE Select	ENSP00000262442.3:p.Arg2947Ter
NM_001372.3:c.8839C>T	NP_001363.2:p.Arg2947Ter
ENST00000262442.8:c.8839C>T	ENSP00000262442.3:p.Arg2947Ter
ENST00000454412.6:c.8839C>T	ENSP00000414874.2:p.Arg2947Ter
XM_011523703.1:c.8839C>T	XP_011522005.1:p.Arg2947Ter
XM_011523703.2:c.8839C>T	XP_011522005.1:p.Arg2947Ter
XM_017024292.2:c.8722C>T	XP_016879781.1:p.Arg2908Ter
XM_017024293.1:c.6721C>T	XP_016879782.1:p.Arg2241Ter
XM_017024294.2:c.8839C>T	XP_016879783.1:p.Arg2947Ter