Canonical Allele Identifier: CA359222506

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13794059C>T , CM000667.2:g.13794059C>T	GRCh38
NC_000005.9:g.13794168C>T , CM000667.1:g.13794168C>T	GRCh37
NC_000005.8:g.13847168C>T	NCBI36
NG_013081.1:g.155422G>A
NG_013081.2:g.155422G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7888-1G>A MANE Select	NP_001360.1:n.7888-1G>A
ENST00000265104.5:c.7888-1G>A MANE Select	ENSP00000265104.4:n.7888-1G>A
NM_001369.2:c.7888-1G>A	NP_001360.1:n.7888-1G>A
ENST00000265104.4:c.7888-1G>A	ENSP00000265104.4:n.7888-1G>A
ENST00000681290.1:c.7843-1G>A	ENSP00000505288.1:n.7843-1G>A
XM_005248262.2:c.7843-1G>A	XP_005248319.1:n.7843-1G>A
XM_005248262.3:c.7996-1G>A	XP_005248319.2:n.7996-1G>A
XM_011513990.1:c.7888-1G>A	XP_011512292.1:n.7888-1G>A
XM_017009177.1:c.7996-1G>A	XP_016864666.1:n.7996-1G>A
XM_017009178.1:c.6901-1G>A	XP_016864667.1:n.6901-1G>A
XM_017009179.2:c.6901-1G>A	XP_016864668.1:n.6901-1G>A
XM_017009180.1:c.7996-1G>A	XP_016864669.1:n.7996-1G>A
XM_017009181.1:c.7996-1G>A	XP_016864670.1:n.7996-1G>A
XM_017009182.1:c.7996-1G>A	XP_016864671.1:n.7996-1G>A
XM_017009183.1:c.7996-1G>A	XP_016864672.1:n.7996-1G>A
XM_017009184.1:c.7996-1G>A	XP_016864673.1:n.7996-1G>A
XM_017009185.1:c.3085-1G>A	XP_016864674.1:n.3085-1G>A
XM_017009186.1:c.2638-1G>A	XP_016864675.1:n.2638-1G>A
XM_017009187.1:c.8031-1G>A	XP_016864676.1:n.8031-1G>A
XM_017009188.1:c.1975-1G>A	XP_016864677.1:n.1975-1G>A
XM_024454388.1:c.6901-1G>A	XP_024310156.1:n.6901-1G>A
XM_024454389.1:c.6490-1G>A	XP_024310157.1:n.6490-1G>A
XR_001742034.1:n.8013-1G>A
XR_001742035.1:n.8013-1G>A
XR_925598.1:n.8095-1G>A