Canonical Allele Identifier: CA1528431223
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770882C= , CM000667.2:g.13770882C= GRCh38
NC_000005.9:g.13770991C= , CM000667.1:g.13770991C= GRCh37
NC_000005.8:g.13823991C= NCBI36
NG_013081.1:g.178599G=
NG_013081.2:g.178599G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9472G= MANE Select ENSP00000265104.4:p.Glu3158=
ENST00000681290.1:c.9427G= ENSP00000505288.1:p.Glu3143=
ENST00000265104.4:c.9472G= ENSP00000265104.4:p.Glu3158=
ENST00000504001.3:n.184G=
NM_001369.2:c.9472G= NP_001360.1:p.Glu3158=
XM_005248262.2:c.9427G= XP_005248319.1:p.Glu3143=
XM_005248262.3:c.9580G= XP_005248319.2:p.Glu3194=
XM_017009177.1:c.9580G= XP_016864666.1:p.Glu3194=
XM_017009178.1:c.8485G= XP_016864667.1:p.Glu2829=
XM_017009179.2:c.8485G= XP_016864668.1:p.Glu2829=
XM_017009180.1:c.9580G= XP_016864669.1:p.Glu3194=
XM_017009181.1:c.9580G= XP_016864670.1:p.Glu3194=
XM_017009182.1:c.9580G= XP_016864671.1:p.Glu3194=
XM_017009183.1:c.9580G= XP_016864672.1:p.Glu3194=
XM_017009185.1:c.4669G= XP_016864674.1:p.Glu1557=
XM_017009186.1:c.4222G= XP_016864675.1:p.Glu1408=
XM_017009188.1:c.3559G= XP_016864677.1:p.Glu1187=
XM_024454388.1:c.8485G= XP_024310156.1:p.Glu2829=
XM_024454389.1:c.8074G= XP_024310157.1:p.Glu2692=
NM_001369.3:c.9472G= MANE Select NP_001360.1:p.Glu3158=