Canonical Allele Identifier: CA3203824

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13850806G>A , CM000667.2:g.13850806G>A	GRCh38
NC_000005.9:g.13850915G>A , CM000667.1:g.13850915G>A	GRCh37
NC_000005.8:g.13903915G>A	NCBI36
NG_013081.1:g.98675C>T
NG_013081.2:g.98675C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.4960C>T MANE Select	NP_001360.1:p.Arg1654Trp
ENST00000265104.5:c.4960C>T MANE Select	ENSP00000265104.4:p.Arg1654Trp
NM_001369.2:c.4960C>T	NP_001360.1:p.Arg1654Trp
ENST00000265104.4:c.4960C>T	ENSP00000265104.4:p.Arg1654Trp
ENST00000681290.1:c.4915C>T	ENSP00000505288.1:p.Arg1639Trp
XM_005248262.2:c.4915C>T	XP_005248319.1:p.Arg1639Trp
XM_005248262.3:c.5068C>T	XP_005248319.2:p.Arg1690Trp
XM_011513990.1:c.4960C>T	XP_011512292.1:p.Arg1654Trp
XM_017009177.1:c.5068C>T	XP_016864666.1:p.Arg1690Trp
XM_017009178.1:c.3973C>T	XP_016864667.1:p.Arg1325Trp
XM_017009179.2:c.3973C>T	XP_016864668.1:p.Arg1325Trp
XM_017009180.1:c.5068C>T	XP_016864669.1:p.Arg1690Trp
XM_017009181.1:c.5068C>T	XP_016864670.1:p.Arg1690Trp
XM_017009182.1:c.5068C>T	XP_016864671.1:p.Arg1690Trp
XM_017009183.1:c.5068C>T	XP_016864672.1:p.Arg1690Trp
XM_017009184.1:c.5068C>T	XP_016864673.1:p.Arg1690Trp
XM_017009185.1:c.157C>T	XP_016864674.1:p.Arg53Trp
XM_017009187.1:c.5068C>T	XP_016864676.1:p.Arg1690Trp
XM_024454388.1:c.3973C>T	XP_024310156.1:p.Arg1325Trp
XM_024454389.1:c.3562C>T	XP_024310157.1:p.Arg1188Trp
XR_001742034.1:n.5085C>T
XR_001742035.1:n.5085C>T
XR_925598.1:n.5167C>T