Canonical Allele Identifier: CA359233083

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13871673G>C , CM000667.2:g.13871673G>C	GRCh38
NC_000005.9:g.13871782G>C , CM000667.1:g.13871782G>C	GRCh37
NC_000005.8:g.13924782G>C	NCBI36
NG_013081.1:g.77808C>G
NG_013081.2:g.77808C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.3489C>G MANE Select	NP_001360.1:p.Ser1163Arg
ENST00000265104.5:c.3489C>G MANE Select	ENSP00000265104.4:p.Ser1163Arg
NM_001369.2:c.3489C>G	NP_001360.1:p.Ser1163Arg
ENST00000265104.4:c.3489C>G	ENSP00000265104.4:p.Ser1163Arg
ENST00000681290.1:c.3444C>G	ENSP00000505288.1:p.Ser1148Arg
XM_005248262.2:c.3444C>G	XP_005248319.1:p.Ser1148Arg
XM_005248262.3:c.3597C>G	XP_005248319.2:p.Ser1199Arg
XM_011513990.1:c.3489C>G	XP_011512292.1:p.Ser1163Arg
XM_017009177.1:c.3597C>G	XP_016864666.1:p.Ser1199Arg
XM_017009178.1:c.2502C>G	XP_016864667.1:p.Ser834Arg
XM_017009179.2:c.2502C>G	XP_016864668.1:p.Ser834Arg
XM_017009180.1:c.3597C>G	XP_016864669.1:p.Ser1199Arg
XM_017009181.1:c.3597C>G	XP_016864670.1:p.Ser1199Arg
XM_017009182.1:c.3597C>G	XP_016864671.1:p.Ser1199Arg
XM_017009183.1:c.3597C>G	XP_016864672.1:p.Ser1199Arg
XM_017009184.1:c.3597C>G	XP_016864673.1:p.Ser1199Arg
XM_017009187.1:c.3597C>G	XP_016864676.1:p.Ser1199Arg
XM_024454388.1:c.2502C>G	XP_024310156.1:p.Ser834Arg
XM_024454389.1:c.2091C>G	XP_024310157.1:p.Ser697Arg
XR_001742034.1:n.3614C>G
XR_001742035.1:n.3614C>G
XR_925598.1:n.3696C>G