Canonical Allele Identifier: CA3202548

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770944C>T , CM000667.2:g.13770944C>T	GRCh38
NC_000005.9:g.13771053C>T , CM000667.1:g.13771053C>T	GRCh37
NC_000005.8:g.13824053C>T	NCBI36
NG_013081.1:g.178537G>A
NG_013081.2:g.178537G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9410G>A MANE Select	NP_001360.1:p.Cys3137Tyr
ENST00000265104.5:c.9410G>A MANE Select	ENSP00000265104.4:p.Cys3137Tyr
NM_001369.2:c.9410G>A	NP_001360.1:p.Cys3137Tyr
ENST00000265104.4:c.9410G>A	ENSP00000265104.4:p.Cys3137Tyr
ENST00000504001.3:n.122G>A
ENST00000681290.1:c.9365G>A	ENSP00000505288.1:p.Cys3122Tyr
XM_005248262.2:c.9365G>A	XP_005248319.1:p.Cys3122Tyr
XM_005248262.3:c.9518G>A	XP_005248319.2:p.Cys3173Tyr
XM_017009177.1:c.9518G>A	XP_016864666.1:p.Cys3173Tyr
XM_017009178.1:c.8423G>A	XP_016864667.1:p.Cys2808Tyr
XM_017009179.2:c.8423G>A	XP_016864668.1:p.Cys2808Tyr
XM_017009180.1:c.9518G>A	XP_016864669.1:p.Cys3173Tyr
XM_017009181.1:c.9518G>A	XP_016864670.1:p.Cys3173Tyr
XM_017009182.1:c.9518G>A	XP_016864671.1:p.Cys3173Tyr
XM_017009183.1:c.9518G>A	XP_016864672.1:p.Cys3173Tyr
XM_017009185.1:c.4607G>A	XP_016864674.1:p.Cys1536Tyr
XM_017009186.1:c.4160G>A	XP_016864675.1:p.Cys1387Tyr
XM_017009188.1:c.3497G>A	XP_016864677.1:p.Cys1166Tyr
XM_024454388.1:c.8423G>A	XP_024310156.1:p.Cys2808Tyr
XM_024454389.1:c.8012G>A	XP_024310157.1:p.Cys2671Tyr