Canonical Allele Identifier: CA359219439

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13859466T>A , CM000667.2:g.13859466T>A	GRCh38
NC_000005.9:g.13859575T>A , CM000667.1:g.13859575T>A	GRCh37
NC_000005.8:g.13912575T>A	NCBI36
NG_013081.1:g.90015A>T
NG_013081.2:g.90015A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.4936A>T MANE Select	NP_001360.1:p.Lys1646Ter
ENST00000265104.5:c.4936A>T MANE Select	ENSP00000265104.4:p.Lys1646Ter
NM_001369.2:c.4936A>T	NP_001360.1:p.Lys1646Ter
ENST00000265104.4:c.4936A>T	ENSP00000265104.4:p.Lys1646Ter
ENST00000681290.1:c.4891A>T	ENSP00000505288.1:p.Lys1631Ter
XM_005248262.2:c.4891A>T	XP_005248319.1:p.Lys1631Ter
XM_005248262.3:c.5044A>T	XP_005248319.2:p.Lys1682Ter
XM_011513990.1:c.4936A>T	XP_011512292.1:p.Lys1646Ter
XM_017009177.1:c.5044A>T	XP_016864666.1:p.Lys1682Ter
XM_017009178.1:c.3949A>T	XP_016864667.1:p.Lys1317Ter
XM_017009179.2:c.3949A>T	XP_016864668.1:p.Lys1317Ter
XM_017009180.1:c.5044A>T	XP_016864669.1:p.Lys1682Ter
XM_017009181.1:c.5044A>T	XP_016864670.1:p.Lys1682Ter
XM_017009182.1:c.5044A>T	XP_016864671.1:p.Lys1682Ter
XM_017009183.1:c.5044A>T	XP_016864672.1:p.Lys1682Ter
XM_017009184.1:c.5044A>T	XP_016864673.1:p.Lys1682Ter
XM_017009185.1:c.133A>T	XP_016864674.1:p.Lys45Ter
XM_017009187.1:c.5044A>T	XP_016864676.1:p.Lys1682Ter
XM_024454388.1:c.3949A>T	XP_024310156.1:p.Lys1317Ter
XM_024454389.1:c.3538A>T	XP_024310157.1:p.Lys1180Ter
XR_001742034.1:n.5061A>T
XR_001742035.1:n.5061A>T
XR_925598.1:n.5143A>T