Canonical Allele Identifier: CA113962050

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793723C>T , CM000667.2:g.13793723C>T	GRCh38
NC_000005.9:g.13793832C>T , CM000667.1:g.13793832C>T	GRCh37
NC_000005.8:g.13846832C>T	NCBI36
NG_013081.1:g.155758G>A
NG_013081.2:g.155758G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.8016G>A MANE Select	NP_001360.1:p.Thr2672=
ENST00000265104.5:c.8016G>A MANE Select	ENSP00000265104.4:p.Thr2672=
NM_001369.2:c.8016G>A	NP_001360.1:p.Thr2672=
ENST00000265104.4:c.8016G>A	ENSP00000265104.4:p.Thr2672=
ENST00000681290.1:c.7971G>A	ENSP00000505288.1:p.Thr2657=
XM_005248262.2:c.7971G>A	XP_005248319.1:p.Thr2657=
XM_005248262.3:c.8124G>A	XP_005248319.2:p.Thr2708=
XM_011513990.1:c.8016G>A	XP_011512292.1:p.Thr2672=
XM_017009177.1:c.8124G>A	XP_016864666.1:p.Thr2708=
XM_017009178.1:c.7029G>A	XP_016864667.1:p.Thr2343=
XM_017009179.2:c.7029G>A	XP_016864668.1:p.Thr2343=
XM_017009180.1:c.8124G>A	XP_016864669.1:p.Thr2708=
XM_017009181.1:c.8124G>A	XP_016864670.1:p.Thr2708=
XM_017009182.1:c.8124G>A	XP_016864671.1:p.Thr2708=
XM_017009183.1:c.8124G>A	XP_016864672.1:p.Thr2708=
XM_017009184.1:c.8124G>A	XP_016864673.1:p.Thr2708=
XM_017009185.1:c.3213G>A	XP_016864674.1:p.Thr1071=
XM_017009186.1:c.2766G>A	XP_016864675.1:p.Thr922=
XM_017009188.1:c.2103G>A	XP_016864677.1:p.Thr701=
XM_024454388.1:c.7029G>A	XP_024310156.1:p.Thr2343=
XM_024454389.1:c.6618G>A	XP_024310157.1:p.Thr2206=
XR_001742034.1:n.8141G>A
XR_001742035.1:n.8141G>A
XR_925598.1:n.8223G>A