Canonical Allele Identifier: CA359217075

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13850730C>T , CM000667.2:g.13850730C>T	GRCh38
NC_000005.9:g.13850839C>T , CM000667.1:g.13850839C>T	GRCh37
NC_000005.8:g.13903839C>T	NCBI36
NG_013081.1:g.98751G>A
NG_013081.2:g.98751G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.5036G>A MANE Select	NP_001360.1:p.Cys1679Tyr
ENST00000265104.5:c.5036G>A MANE Select	ENSP00000265104.4:p.Cys1679Tyr
NM_001369.2:c.5036G>A	NP_001360.1:p.Cys1679Tyr
ENST00000265104.4:c.5036G>A	ENSP00000265104.4:p.Cys1679Tyr
ENST00000681290.1:c.4991G>A	ENSP00000505288.1:p.Cys1664Tyr
XM_005248262.2:c.4991G>A	XP_005248319.1:p.Cys1664Tyr
XM_005248262.3:c.5144G>A	XP_005248319.2:p.Cys1715Tyr
XM_011513990.1:c.5036G>A	XP_011512292.1:p.Cys1679Tyr
XM_017009177.1:c.5144G>A	XP_016864666.1:p.Cys1715Tyr
XM_017009178.1:c.4049G>A	XP_016864667.1:p.Cys1350Tyr
XM_017009179.2:c.4049G>A	XP_016864668.1:p.Cys1350Tyr
XM_017009180.1:c.5144G>A	XP_016864669.1:p.Cys1715Tyr
XM_017009181.1:c.5144G>A	XP_016864670.1:p.Cys1715Tyr
XM_017009182.1:c.5144G>A	XP_016864671.1:p.Cys1715Tyr
XM_017009183.1:c.5144G>A	XP_016864672.1:p.Cys1715Tyr
XM_017009184.1:c.5144G>A	XP_016864673.1:p.Cys1715Tyr
XM_017009185.1:c.233G>A	XP_016864674.1:p.Cys78Tyr
XM_017009186.1:c.-58G>A	XP_016864675.1:n.-58G>A
XM_017009187.1:c.5144G>A	XP_016864676.1:p.Cys1715Tyr
XM_024454388.1:c.4049G>A	XP_024310156.1:p.Cys1350Tyr
XM_024454389.1:c.3638G>A	XP_024310157.1:p.Cys1213Tyr
XR_001742034.1:n.5161G>A
XR_001742035.1:n.5161G>A
XR_925598.1:n.5243G>A