Canonical Allele Identifier: CA3202477

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769595T>C , CM000667.2:g.13769595T>C	GRCh38
NC_000005.9:g.13769704T>C , CM000667.1:g.13769704T>C	GRCh37
NC_000005.8:g.13822704T>C	NCBI36
NG_013081.1:g.179886A>G
NG_013081.2:g.179886A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9626A>G MANE Select	NP_001360.1:p.Lys3209Arg
ENST00000265104.5:c.9626A>G MANE Select	ENSP00000265104.4:p.Lys3209Arg
NM_001369.2:c.9626A>G	NP_001360.1:p.Lys3209Arg
ENST00000265104.4:c.9626A>G	ENSP00000265104.4:p.Lys3209Arg
ENST00000504001.3:n.338A>G
ENST00000681290.1:c.9581A>G	ENSP00000505288.1:p.Lys3194Arg
XM_005248262.2:c.9581A>G	XP_005248319.1:p.Lys3194Arg
XM_005248262.3:c.9734A>G	XP_005248319.2:p.Lys3245Arg
XM_017009177.1:c.9734A>G	XP_016864666.1:p.Lys3245Arg
XM_017009178.1:c.8639A>G	XP_016864667.1:p.Lys2880Arg
XM_017009179.2:c.8639A>G	XP_016864668.1:p.Lys2880Arg
XM_017009180.1:c.9734A>G	XP_016864669.1:p.Lys3245Arg
XM_017009181.1:c.9734A>G	XP_016864670.1:p.Lys3245Arg
XM_017009182.1:c.9734A>G	XP_016864671.1:p.Lys3245Arg
XM_017009185.1:c.4823A>G	XP_016864674.1:p.Lys1608Arg
XM_017009186.1:c.4376A>G	XP_016864675.1:p.Lys1459Arg
XM_017009188.1:c.3713A>G	XP_016864677.1:p.Lys1238Arg
XM_024454388.1:c.8639A>G	XP_024310156.1:p.Lys2880Arg
XM_024454389.1:c.8228A>G	XP_024310157.1:p.Lys2743Arg