Canonical Allele Identifier: CA1528423493
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753387A= , CM000667.2:g.13753387A= GRCh38
NC_000005.9:g.13753496A= , CM000667.1:g.13753496A= GRCh37
NC_000005.8:g.13806496A= NCBI36
NG_013081.1:g.196094T=
NG_013081.2:g.196094T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10718T= MANE Select ENSP00000265104.4:p.Ile3573=
ENST00000681290.1:c.10673T= ENSP00000505288.1:p.Ile3558=
ENST00000265104.4:c.10718T= ENSP00000265104.4:p.Ile3573=
NM_001369.2:c.10718T= NP_001360.1:p.Ile3573=
XM_005248262.2:c.10673T= XP_005248319.1:p.Ile3558=
XM_005248262.3:c.10826T= XP_005248319.2:p.Ile3609=
XM_017009177.1:c.10826T= XP_016864666.1:p.Ile3609=
XM_017009178.1:c.9731T= XP_016864667.1:p.Ile3244=
XM_017009179.2:c.9731T= XP_016864668.1:p.Ile3244=
XM_017009180.1:c.10826T= XP_016864669.1:p.Ile3609=
XM_017009181.1:c.10826T= XP_016864670.1:p.Ile3609=
XM_017009182.1:c.10826T= XP_016864671.1:p.Ile3609=
XM_017009185.1:c.5915T= XP_016864674.1:p.Ile1972=
XM_017009186.1:c.5468T= XP_016864675.1:p.Ile1823=
XM_017009188.1:c.4805T= XP_016864677.1:p.Ile1602=
XM_024454388.1:c.9731T= XP_024310156.1:p.Ile3244=
XM_024454389.1:c.9320T= XP_024310157.1:p.Ile3107=
NM_001369.3:c.10718T= MANE Select NP_001360.1:p.Ile3573=