Canonical Allele Identifier: CA1528431170
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770755G= , CM000667.2:g.13770755G= GRCh38
NC_000005.9:g.13770864G= , CM000667.1:g.13770864G= GRCh37
NC_000005.8:g.13823864G= NCBI36
NG_013081.1:g.178726C=
NG_013081.2:g.178726C=

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.9599C= MANE Select ENSP00000265104.4:p.Ala3200=
ENST00000681290.1:c.9554C= ENSP00000505288.1:p.Ala3185=
ENST00000265104.4:c.9599C= ENSP00000265104.4:p.Ala3200=
ENST00000504001.3:n.311C=
NM_001369.2:c.9599C= NP_001360.1:p.Ala3200=
XM_005248262.2:c.9554C= XP_005248319.1:p.Ala3185=
XM_005248262.3:c.9707C= XP_005248319.2:p.Ala3236=
XM_017009177.1:c.9707C= XP_016864666.1:p.Ala3236=
XM_017009178.1:c.8612C= XP_016864667.1:p.Ala2871=
XM_017009179.2:c.8612C= XP_016864668.1:p.Ala2871=
XM_017009180.1:c.9707C= XP_016864669.1:p.Ala3236=
XM_017009181.1:c.9707C= XP_016864670.1:p.Ala3236=
XM_017009182.1:c.9707C= XP_016864671.1:p.Ala3236=
XM_017009183.1:c.9707C= XP_016864672.1:p.Ala3236=
XM_017009185.1:c.4796C= XP_016864674.1:p.Ala1599=
XM_017009186.1:c.4349C= XP_016864675.1:p.Ala1450=
XM_017009188.1:c.3686C= XP_016864677.1:p.Ala1229=
XM_024454388.1:c.8612C= XP_024310156.1:p.Ala2871=
XM_024454389.1:c.8201C= XP_024310157.1:p.Ala2734=
NM_001369.3:c.9599C= MANE Select NP_001360.1:p.Ala3200=