Canonical Allele Identifier: CA1528440985
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13792139G= , CM000667.2:g.13792139G= GRCh38
NC_000005.9:g.13792248G= , CM000667.1:g.13792248G= GRCh37
NC_000005.8:g.13845248G= NCBI36
NG_013081.1:g.157342C=
NG_013081.2:g.157342C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8303C= MANE Select ENSP00000265104.4:p.Pro2768=
ENST00000681290.1:c.8258C= ENSP00000505288.1:p.Pro2753=
ENST00000265104.4:c.8303C= ENSP00000265104.4:p.Pro2768=
NM_001369.2:c.8303C= NP_001360.1:p.Pro2768=
XM_005248262.2:c.8258C= XP_005248319.1:p.Pro2753=
XM_011513990.1:c.8303C= XP_011512292.1:p.Pro2768=
XR_925598.1:n.8510C=
XM_005248262.3:c.8411C= XP_005248319.2:p.Pro2804=
XM_017009177.1:c.8411C= XP_016864666.1:p.Pro2804=
XM_017009178.1:c.7316C= XP_016864667.1:p.Pro2439=
XM_017009179.2:c.7316C= XP_016864668.1:p.Pro2439=
XM_017009180.1:c.8411C= XP_016864669.1:p.Pro2804=
XM_017009181.1:c.8411C= XP_016864670.1:p.Pro2804=
XM_017009182.1:c.8411C= XP_016864671.1:p.Pro2804=
XM_017009183.1:c.8411C= XP_016864672.1:p.Pro2804=
XM_017009184.1:c.8411C= XP_016864673.1:p.Pro2804=
XM_017009185.1:c.3500C= XP_016864674.1:p.Pro1167=
XM_017009186.1:c.3053C= XP_016864675.1:p.Pro1018=
XM_017009188.1:c.2390C= XP_016864677.1:p.Pro797=
XM_024454388.1:c.7316C= XP_024310156.1:p.Pro2439=
XM_024454389.1:c.6905C= XP_024310157.1:p.Pro2302=
XR_001742034.1:n.8428C=
XR_001742035.1:n.8428C=
NM_001369.3:c.8303C= MANE Select NP_001360.1:p.Pro2768=