Canonical Allele Identifier: CA359211891

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13911428G>T , CM000667.2:g.13911428G>T	GRCh38
NC_000005.9:g.13911537G>T , CM000667.1:g.13911537G>T	GRCh37
NC_000005.8:g.13964537G>T	NCBI36
NG_013081.1:g.38053C>A
NG_013081.2:g.38053C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1602C>A MANE Select	NP_001360.1:p.Asp534Glu
ENST00000265104.5:c.1602C>A MANE Select	ENSP00000265104.4:p.Asp534Glu
NM_001369.2:c.1602C>A	NP_001360.1:p.Asp534Glu
ENST00000265104.4:c.1602C>A	ENSP00000265104.4:p.Asp534Glu
ENST00000508040.1:n.2010C>A
ENST00000680213.1:c.1362C>A	ENSP00000506622.1:p.Asp454Glu
ENST00000680213.2:n.1658C>A
ENST00000681290.1:c.1557C>A	ENSP00000505288.1:p.Asp519Glu
ENST00000683011.1:n.1541C>A
ENST00000683967.1:n.3967C>A
ENST00000684013.1:n.2262C>A
ENST00000684099.1:n.2258C>A
XM_005248262.2:c.1557C>A	XP_005248319.1:p.Asp519Glu
XM_005248262.3:c.1710C>A	XP_005248319.2:p.Asp570Glu
XM_011513990.1:c.1602C>A	XP_011512292.1:p.Asp534Glu
XM_017009177.1:c.1710C>A	XP_016864666.1:p.Asp570Glu
XM_017009178.1:c.615C>A	XP_016864667.1:p.Asp205Glu
XM_017009179.2:c.615C>A	XP_016864668.1:p.Asp205Glu
XM_017009180.1:c.1710C>A	XP_016864669.1:p.Asp570Glu
XM_017009181.1:c.1710C>A	XP_016864670.1:p.Asp570Glu
XM_017009182.1:c.1710C>A	XP_016864671.1:p.Asp570Glu
XM_017009183.1:c.1710C>A	XP_016864672.1:p.Asp570Glu
XM_017009184.1:c.1710C>A	XP_016864673.1:p.Asp570Glu
XM_017009187.1:c.1710C>A	XP_016864676.1:p.Asp570Glu
XM_024454388.1:c.615C>A	XP_024310156.1:p.Asp205Glu
XM_024454389.1:c.204C>A	XP_024310157.1:p.Asp68Glu
XR_001742034.1:n.1727C>A
XR_001742035.1:n.1727C>A
XR_925598.1:n.1809C>A