Canonical Allele Identifier: CA1528425952
Community Standard Title: NM_001369.3(DNAH5):c.10384C= (p.Gln3462=)
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13758881G= , CM000667.2:g.13758881G= GRCh38
NC_000005.9:g.13758990G= , CM000667.1:g.13758990G= GRCh37
NC_000005.8:g.13811990G= NCBI36
NG_013081.1:g.190600C=
NG_013081.2:g.190600C=

Transcript Alleles

HGVS Amino-acid Change
NM_001369.3:c.10384C= MANE Select NP_001360.1:p.Gln3462=
ENST00000265104.5:c.10384C= MANE Select ENSP00000265104.4:p.Gln3462=
NM_001369.2:c.10384C= NP_001360.1:p.Gln3462=
ENST00000265104.4:c.10384C= ENSP00000265104.4:p.Gln3462=
ENST00000681290.1:c.10339C= ENSP00000505288.1:p.Gln3447=
XM_005248262.2:c.10339C= XP_005248319.1:p.Gln3447=
XM_005248262.3:c.10492C= XP_005248319.2:p.Gln3498=
XM_017009177.1:c.10492C= XP_016864666.1:p.Gln3498=
XM_017009178.1:c.9397C= XP_016864667.1:p.Gln3133=
XM_017009179.2:c.9397C= XP_016864668.1:p.Gln3133=
XM_017009180.1:c.10492C= XP_016864669.1:p.Gln3498=
XM_017009181.1:c.10492C= XP_016864670.1:p.Gln3498=
XM_017009182.1:c.10492C= XP_016864671.1:p.Gln3498=
XM_017009185.1:c.5581C= XP_016864674.1:p.Gln1861=
XM_017009186.1:c.5134C= XP_016864675.1:p.Gln1712=
XM_017009188.1:c.4471C= XP_016864677.1:p.Gln1491=
XM_024454388.1:c.9397C= XP_024310156.1:p.Gln3133=
XM_024454389.1:c.8986C= XP_024310157.1:p.Gln2996=