Canonical Allele Identifier: CA1528403777
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708254C= , CM000667.2:g.13708254C= GRCh38
NC_000005.9:g.13708363C= , CM000667.1:g.13708363C= GRCh37
NC_000005.8:g.13761363C= NCBI36
NG_013081.1:g.241227G=
NG_013081.2:g.241227G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.540G=
ENST00000265104.5:c.13207G= MANE Select ENSP00000265104.4:p.Val4403=
ENST00000681290.1:c.13162G= ENSP00000505288.1:p.Val4388=
ENST00000265104.4:c.13207G= ENSP00000265104.4:p.Val4403=
NM_001369.2:c.13207G= NP_001360.1:p.Val4403=
XM_005248262.2:c.13162G= XP_005248319.1:p.Val4388=
XM_005248262.3:c.13315G= XP_005248319.2:p.Val4439=
XM_017009177.1:c.12895G= XP_016864666.1:p.Val4299=
XM_017009178.1:c.12220G= XP_016864667.1:p.Val4074=
XM_017009179.2:c.12220G= XP_016864668.1:p.Val4074=
XM_017009185.1:c.8404G= XP_016864674.1:p.Val2802=
XM_017009186.1:c.7957G= XP_016864675.1:p.Val2653=
XM_017009188.1:c.7294G= XP_016864677.1:p.Val2432=
XM_024454388.1:c.12220G= XP_024310156.1:p.Val4074=
XM_024454389.1:c.11809G= XP_024310157.1:p.Val3937=
NM_001369.3:c.13207G= MANE Select NP_001360.1:p.Val4403=