Canonical Allele Identifier: CA1528435892
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780935G= , CM000667.2:g.13780935G= GRCh38
NC_000005.9:g.13781044G= , CM000667.1:g.13781044G= GRCh37
NC_000005.8:g.13834044G= NCBI36
NG_013081.1:g.168546C=
NG_013081.2:g.168546C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8845C= MANE Select ENSP00000265104.4:p.Gln2949=
ENST00000681290.1:c.8800C= ENSP00000505288.1:p.Gln2934=
ENST00000265104.4:c.8845C= ENSP00000265104.4:p.Gln2949=
NM_001369.2:c.8845C= NP_001360.1:p.Gln2949=
XM_005248262.2:c.8800C= XP_005248319.1:p.Gln2934=
XM_011513990.1:c.8845C= XP_011512292.1:p.Gln2949=
XR_925598.1:n.9028-3580C=
XM_005248262.3:c.8953C= XP_005248319.2:p.Gln2985=
XM_017009177.1:c.8953C= XP_016864666.1:p.Gln2985=
XM_017009178.1:c.7858C= XP_016864667.1:p.Gln2620=
XM_017009179.2:c.7858C= XP_016864668.1:p.Gln2620=
XM_017009180.1:c.8953C= XP_016864669.1:p.Gln2985=
XM_017009181.1:c.8953C= XP_016864670.1:p.Gln2985=
XM_017009182.1:c.8953C= XP_016864671.1:p.Gln2985=
XM_017009183.1:c.8953C= XP_016864672.1:p.Gln2985=
XM_017009184.1:c.8953C= XP_016864673.1:p.Gln2985=
XM_017009185.1:c.4042C= XP_016864674.1:p.Gln1348=
XM_017009186.1:c.3595C= XP_016864675.1:p.Gln1199=
XM_017009188.1:c.2932C= XP_016864677.1:p.Gln978=
XM_024454388.1:c.7858C= XP_024310156.1:p.Gln2620=
XM_024454389.1:c.7447C= XP_024310157.1:p.Gln2483=
XR_001742034.1:n.8946-3580C=
XR_001742035.1:n.8946-3580C=
NM_001369.3:c.8845C= MANE Select NP_001360.1:p.Gln2949=