Canonical Allele Identifier: CA1528476440
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870909T= , CM000667.2:g.13870909T= GRCh38
NC_000005.9:g.13871018T= , CM000667.1:g.13871018T= GRCh37
NC_000005.8:g.13924018T= NCBI36
NG_013081.1:g.78572A=
NG_013081.2:g.78572A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3692A= MANE Select ENSP00000265104.4:p.Asn1231=
ENST00000681290.1:c.3647A= ENSP00000505288.1:p.Asn1216=
ENST00000265104.4:c.3692A= ENSP00000265104.4:p.Asn1231=
NM_001369.2:c.3692A= NP_001360.1:p.Asn1231=
XM_005248262.2:c.3647A= XP_005248319.1:p.Asn1216=
XM_011513990.1:c.3692A= XP_011512292.1:p.Asn1231=
XR_925598.1:n.3899A=
XM_005248262.3:c.3800A= XP_005248319.2:p.Asn1267=
XM_017009177.1:c.3800A= XP_016864666.1:p.Asn1267=
XM_017009178.1:c.2705A= XP_016864667.1:p.Asn902=
XM_017009179.2:c.2705A= XP_016864668.1:p.Asn902=
XM_017009180.1:c.3800A= XP_016864669.1:p.Asn1267=
XM_017009181.1:c.3800A= XP_016864670.1:p.Asn1267=
XM_017009182.1:c.3800A= XP_016864671.1:p.Asn1267=
XM_017009183.1:c.3800A= XP_016864672.1:p.Asn1267=
XM_017009184.1:c.3800A= XP_016864673.1:p.Asn1267=
XM_017009187.1:c.3800A= XP_016864676.1:p.Asn1267=
XM_024454388.1:c.2705A= XP_024310156.1:p.Asn902=
XM_024454389.1:c.2294A= XP_024310157.1:p.Asn765=
XR_001742034.1:n.3817A=
XR_001742035.1:n.3817A=
NM_001369.3:c.3692A= MANE Select NP_001360.1:p.Asn1231=