Canonical Allele Identifier: CA113967304
Gene: DNAH5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13798450A>C , CM000667.2:g.13798450A>C GRCh38
NC_000005.9:g.13798559A>C , CM000667.1:g.13798559A>C GRCh37
NC_000005.8:g.13851559A>C NCBI36
NG_013081.1:g.151031T>G
NG_013081.2:g.151031T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.7888-4392T>G MANE Select ENSP00000265104.4:n.7888-4392T>G
ENST00000681290.1:c.7843-4392T>G ENSP00000505288.1:n.7843-4392T>G
ENST00000265104.4:c.7888-4392T>G ENSP00000265104.4:n.7888-4392T>G
NM_001369.2:c.7888-4392T>G NP_001360.1:n.7888-4392T>G
XM_005248262.2:c.7843-4392T>G XP_005248319.1:n.7843-4392T>G
XM_011513990.1:c.7888-4392T>G XP_011512292.1:n.7888-4392T>G
XR_925598.1:n.8095-4392T>G
XM_005248262.3:c.7996-4392T>G XP_005248319.2:n.7996-4392T>G
XM_017009177.1:c.7996-4392T>G XP_016864666.1:n.7996-4392T>G
XM_017009178.1:c.6901-4392T>G XP_016864667.1:n.6901-4392T>G
XM_017009179.2:c.6901-4392T>G XP_016864668.1:n.6901-4392T>G
XM_017009180.1:c.7996-4392T>G XP_016864669.1:n.7996-4392T>G
XM_017009181.1:c.7996-4392T>G XP_016864670.1:n.7996-4392T>G
XM_017009182.1:c.7996-4392T>G XP_016864671.1:n.7996-4392T>G
XM_017009183.1:c.7996-4392T>G XP_016864672.1:n.7996-4392T>G
XM_017009184.1:c.7996-4392T>G XP_016864673.1:n.7996-4392T>G
XM_017009185.1:c.3085-4392T>G XP_016864674.1:n.3085-4392T>G
XM_017009186.1:c.2638-4392T>G XP_016864675.1:n.2638-4392T>G
XM_017009187.1:c.8030+1184T>G XP_016864676.1:n.8030+1184T>G
XM_017009188.1:c.1975-4392T>G XP_016864677.1:n.1975-4392T>G
XM_024454388.1:c.6901-4392T>G XP_024310156.1:n.6901-4392T>G
XM_024454389.1:c.6490-4392T>G XP_024310157.1:n.6490-4392T>G
XR_001742034.1:n.8013-4392T>G
XR_001742035.1:n.8013-4392T>G
NM_001369.3:c.7888-4392T>G MANE Select NP_001360.1:n.7888-4392T>G
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