Canonical Allele Identifier: CA359214632

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913953G>T , CM000667.2:g.13913953G>T	GRCh38
NC_000005.9:g.13914062G>T , CM000667.1:g.13914062G>T	GRCh37
NC_000005.8:g.13967062G>T	NCBI36
NG_013081.1:g.35528C>A
NG_013081.2:g.35528C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1326C>A MANE Select	NP_001360.1:p.Tyr442Ter
ENST00000265104.5:c.1326C>A MANE Select	ENSP00000265104.4:p.Tyr442Ter
NM_001369.2:c.1326C>A	NP_001360.1:p.Tyr442Ter
ENST00000265104.4:c.1326C>A	ENSP00000265104.4:p.Tyr442Ter
ENST00000508040.1:n.1734C>A
ENST00000680213.1:c.1086C>A	ENSP00000506622.1:p.Tyr362Ter
ENST00000680213.2:n.1382C>A
ENST00000681290.1:c.1281C>A	ENSP00000505288.1:p.Tyr427Ter
ENST00000682376.1:n.5555C>A
ENST00000683011.1:n.1265C>A
ENST00000683967.1:n.3691C>A
ENST00000684013.1:n.1986C>A
ENST00000684099.1:n.1982C>A
XM_005248262.2:c.1281C>A	XP_005248319.1:p.Tyr427Ter
XM_005248262.3:c.1434C>A	XP_005248319.2:p.Tyr478Ter
XM_011513990.1:c.1326C>A	XP_011512292.1:p.Tyr442Ter
XM_017009177.1:c.1434C>A	XP_016864666.1:p.Tyr478Ter
XM_017009178.1:c.339C>A	XP_016864667.1:p.Tyr113Ter
XM_017009179.2:c.339C>A	XP_016864668.1:p.Tyr113Ter
XM_017009180.1:c.1434C>A	XP_016864669.1:p.Tyr478Ter
XM_017009181.1:c.1434C>A	XP_016864670.1:p.Tyr478Ter
XM_017009182.1:c.1434C>A	XP_016864671.1:p.Tyr478Ter
XM_017009183.1:c.1434C>A	XP_016864672.1:p.Tyr478Ter
XM_017009184.1:c.1434C>A	XP_016864673.1:p.Tyr478Ter
XM_017009187.1:c.1434C>A	XP_016864676.1:p.Tyr478Ter
XM_024454388.1:c.339C>A	XP_024310156.1:p.Tyr113Ter
XM_024454389.1:c.-73C>A	XP_024310157.1:n.-73C>A
XR_001742034.1:n.1451C>A
XR_001742035.1:n.1451C>A
XR_925598.1:n.1533C>A