Canonical Allele Identifier: CA3204801

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13911418C>T , CM000667.2:g.13911418C>T	GRCh38
NC_000005.9:g.13911527C>T , CM000667.1:g.13911527C>T	GRCh37
NC_000005.8:g.13964527C>T	NCBI36
NG_013081.1:g.38063G>A
NG_013081.2:g.38063G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1612G>A MANE Select	NP_001360.1:p.Glu538Lys
ENST00000265104.5:c.1612G>A MANE Select	ENSP00000265104.4:p.Glu538Lys
NM_001369.2:c.1612G>A	NP_001360.1:p.Glu538Lys
ENST00000265104.4:c.1612G>A	ENSP00000265104.4:p.Glu538Lys
ENST00000508040.1:n.2020G>A
ENST00000680213.1:c.1372G>A	ENSP00000506622.1:p.Glu458Lys
ENST00000680213.2:n.1668G>A
ENST00000681290.1:c.1567G>A	ENSP00000505288.1:p.Glu523Lys
ENST00000683011.1:n.1551G>A
ENST00000683967.1:n.3977G>A
ENST00000684013.1:n.2272G>A
ENST00000684099.1:n.2268G>A
XM_005248262.2:c.1567G>A	XP_005248319.1:p.Glu523Lys
XM_005248262.3:c.1720G>A	XP_005248319.2:p.Glu574Lys
XM_011513990.1:c.1612G>A	XP_011512292.1:p.Glu538Lys
XM_017009177.1:c.1720G>A	XP_016864666.1:p.Glu574Lys
XM_017009178.1:c.625G>A	XP_016864667.1:p.Glu209Lys
XM_017009179.2:c.625G>A	XP_016864668.1:p.Glu209Lys
XM_017009180.1:c.1720G>A	XP_016864669.1:p.Glu574Lys
XM_017009181.1:c.1720G>A	XP_016864670.1:p.Glu574Lys
XM_017009182.1:c.1720G>A	XP_016864671.1:p.Glu574Lys
XM_017009183.1:c.1720G>A	XP_016864672.1:p.Glu574Lys
XM_017009184.1:c.1720G>A	XP_016864673.1:p.Glu574Lys
XM_017009187.1:c.1720G>A	XP_016864676.1:p.Glu574Lys
XM_024454388.1:c.625G>A	XP_024310156.1:p.Glu209Lys
XM_024454389.1:c.214G>A	XP_024310157.1:p.Glu72Lys
XR_001742034.1:n.1737G>A
XR_001742035.1:n.1737G>A
XR_925598.1:n.1819G>A