Canonical Allele Identifier: CA359232272
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870958C>T , CM000667.2:g.13870958C>T GRCh38
NC_000005.9:g.13871067C>T , CM000667.1:g.13871067C>T GRCh37
NC_000005.8:g.13924067C>T NCBI36
NG_013081.1:g.78523G>A
NG_013081.2:g.78523G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3643G>A MANE Select ENSP00000265104.4:p.Val1215Ile
ENST00000681290.1:c.3598G>A ENSP00000505288.1:p.Val1200Ile
ENST00000265104.4:c.3643G>A ENSP00000265104.4:p.Val1215Ile
NM_001369.2:c.3643G>A NP_001360.1:p.Val1215Ile
XM_005248262.2:c.3598G>A XP_005248319.1:p.Val1200Ile
XM_011513990.1:c.3643G>A XP_011512292.1:p.Val1215Ile
XR_925598.1:n.3850G>A
XM_005248262.3:c.3751G>A XP_005248319.2:p.Val1251Ile
XM_017009177.1:c.3751G>A XP_016864666.1:p.Val1251Ile
XM_017009178.1:c.2656G>A XP_016864667.1:p.Val886Ile
XM_017009179.2:c.2656G>A XP_016864668.1:p.Val886Ile
XM_017009180.1:c.3751G>A XP_016864669.1:p.Val1251Ile
XM_017009181.1:c.3751G>A XP_016864670.1:p.Val1251Ile
XM_017009182.1:c.3751G>A XP_016864671.1:p.Val1251Ile
XM_017009183.1:c.3751G>A XP_016864672.1:p.Val1251Ile
XM_017009184.1:c.3751G>A XP_016864673.1:p.Val1251Ile
XM_017009187.1:c.3751G>A XP_016864676.1:p.Val1251Ile
XM_024454388.1:c.2656G>A XP_024310156.1:p.Val886Ile
XM_024454389.1:c.2245G>A XP_024310157.1:p.Val749Ile
XR_001742034.1:n.3768G>A
XR_001742035.1:n.3768G>A
NM_001369.3:c.3643G>A MANE Select NP_001360.1:p.Val1215Ile