Canonical Allele Identifier: CA3204139

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13867935T>C , CM000667.2:g.13867935T>C	GRCh38
NC_000005.9:g.13868044T>C , CM000667.1:g.13868044T>C	GRCh37
NC_000005.8:g.13921044T>C	NCBI36
NG_013081.1:g.81546A>G
NG_013081.2:g.81546A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.3892A>G MANE Select	NP_001360.1:p.Lys1298Glu
ENST00000265104.5:c.3892A>G MANE Select	ENSP00000265104.4:p.Lys1298Glu
NM_001369.2:c.3892A>G	NP_001360.1:p.Lys1298Glu
ENST00000265104.4:c.3892A>G	ENSP00000265104.4:p.Lys1298Glu
ENST00000681290.1:c.3847A>G	ENSP00000505288.1:p.Lys1283Glu
XM_005248262.2:c.3847A>G	XP_005248319.1:p.Lys1283Glu
XM_005248262.3:c.4000A>G	XP_005248319.2:p.Lys1334Glu
XM_011513990.1:c.3892A>G	XP_011512292.1:p.Lys1298Glu
XM_017009177.1:c.4000A>G	XP_016864666.1:p.Lys1334Glu
XM_017009178.1:c.2905A>G	XP_016864667.1:p.Lys969Glu
XM_017009179.2:c.2905A>G	XP_016864668.1:p.Lys969Glu
XM_017009180.1:c.4000A>G	XP_016864669.1:p.Lys1334Glu
XM_017009181.1:c.4000A>G	XP_016864670.1:p.Lys1334Glu
XM_017009182.1:c.4000A>G	XP_016864671.1:p.Lys1334Glu
XM_017009183.1:c.4000A>G	XP_016864672.1:p.Lys1334Glu
XM_017009184.1:c.4000A>G	XP_016864673.1:p.Lys1334Glu
XM_017009187.1:c.4000A>G	XP_016864676.1:p.Lys1334Glu
XM_024454388.1:c.2905A>G	XP_024310156.1:p.Lys969Glu
XM_024454389.1:c.2494A>G	XP_024310157.1:p.Lys832Glu
XR_001742034.1:n.4017A>G
XR_001742035.1:n.4017A>G
XR_925598.1:n.4099A>G