Canonical Allele Identifier: CA359191555
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753381T>A , CM000667.2:g.13753381T>A GRCh38
NC_000005.9:g.13753490T>A , CM000667.1:g.13753490T>A GRCh37
NC_000005.8:g.13806490T>A NCBI36
NG_013081.1:g.196100A>T
NG_013081.2:g.196100A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10724A>T MANE Select ENSP00000265104.4:p.Glu3575Val
ENST00000681290.1:c.10679A>T ENSP00000505288.1:p.Glu3560Val
ENST00000265104.4:c.10724A>T ENSP00000265104.4:p.Glu3575Val
NM_001369.2:c.10724A>T NP_001360.1:p.Glu3575Val
XM_005248262.2:c.10679A>T XP_005248319.1:p.Glu3560Val
XM_005248262.3:c.10832A>T XP_005248319.2:p.Glu3611Val
XM_017009177.1:c.10832A>T XP_016864666.1:p.Glu3611Val
XM_017009178.1:c.9737A>T XP_016864667.1:p.Glu3246Val
XM_017009179.2:c.9737A>T XP_016864668.1:p.Glu3246Val
XM_017009180.1:c.10832A>T XP_016864669.1:p.Glu3611Val
XM_017009181.1:c.10832A>T XP_016864670.1:p.Glu3611Val
XM_017009182.1:c.10832A>T XP_016864671.1:p.Glu3611Val
XM_017009185.1:c.5921A>T XP_016864674.1:p.Glu1974Val
XM_017009186.1:c.5474A>T XP_016864675.1:p.Glu1825Val
XM_017009188.1:c.4811A>T XP_016864677.1:p.Glu1604Val
XM_024454388.1:c.9737A>T XP_024310156.1:p.Glu3246Val
XM_024454389.1:c.9326A>T XP_024310157.1:p.Glu3109Val
NM_001369.3:c.10724A>T MANE Select NP_001360.1:p.Glu3575Val