Canonical Allele Identifier: CA359197760

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13824284A>T , CM000667.2:g.13824284A>T	GRCh38
NC_000005.9:g.13824393A>T , CM000667.1:g.13824393A>T	GRCh37
NC_000005.8:g.13877393A>T	NCBI36
NG_013081.1:g.125197T>A
NG_013081.2:g.125197T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6494T>A MANE Select	NP_001360.1:p.Leu2165Ter
ENST00000265104.5:c.6494T>A MANE Select	ENSP00000265104.4:p.Leu2165Ter
NM_001369.2:c.6494T>A	NP_001360.1:p.Leu2165Ter
ENST00000265104.4:c.6494T>A	ENSP00000265104.4:p.Leu2165Ter
ENST00000681290.1:c.6449T>A	ENSP00000505288.1:p.Leu2150Ter
ENST00000683090.1:n.1425T>A
XM_005248262.2:c.6449T>A	XP_005248319.1:p.Leu2150Ter
XM_005248262.3:c.6602T>A	XP_005248319.2:p.Leu2201Ter
XM_011513990.1:c.6494T>A	XP_011512292.1:p.Leu2165Ter
XM_017009177.1:c.6602T>A	XP_016864666.1:p.Leu2201Ter
XM_017009178.1:c.5507T>A	XP_016864667.1:p.Leu1836Ter
XM_017009179.2:c.5507T>A	XP_016864668.1:p.Leu1836Ter
XM_017009180.1:c.6602T>A	XP_016864669.1:p.Leu2201Ter
XM_017009181.1:c.6602T>A	XP_016864670.1:p.Leu2201Ter
XM_017009182.1:c.6602T>A	XP_016864671.1:p.Leu2201Ter
XM_017009183.1:c.6602T>A	XP_016864672.1:p.Leu2201Ter
XM_017009184.1:c.6602T>A	XP_016864673.1:p.Leu2201Ter
XM_017009185.1:c.1691T>A	XP_016864674.1:p.Leu564Ter
XM_017009186.1:c.1244T>A	XP_016864675.1:p.Leu415Ter
XM_017009187.1:c.6602T>A	XP_016864676.1:p.Leu2201Ter
XM_017009188.1:c.581T>A	XP_016864677.1:p.Leu194Ter
XM_024454388.1:c.5507T>A	XP_024310156.1:p.Leu1836Ter
XM_024454389.1:c.5096T>A	XP_024310157.1:p.Leu1699Ter
XR_001742034.1:n.6619T>A
XR_001742035.1:n.6619T>A
XR_925598.1:n.6701T>A