Canonical Allele Identifier: CA443258081

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2768260
• ClinVar RCV Id: RCV003538197
• MyVariant Identifiers: chr5:g.13845024C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844915C>T , CM000667.2:g.13844915C>T	GRCh38
NC_000005.9:g.13845024C>T , CM000667.1:g.13845024C>T	GRCh37
NC_000005.8:g.13898024C>T	NCBI36
NG_013081.1:g.104566G>A
NG_013081.2:g.104566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5193G>A MANE Select	ENSP00000265104.4:p.Gln1731=
ENST00000681290.1:c.5148G>A	ENSP00000505288.1:p.Gln1716=
ENST00000265104.4:c.5193G>A	ENSP00000265104.4:p.Gln1731=
NM_001369.2:c.5193G>A	NP_001360.1:p.Gln1731=
XM_005248262.2:c.5148G>A	XP_005248319.1:p.Gln1716=
XM_011513990.1:c.5193G>A	XP_011512292.1:p.Gln1731=
XR_925598.1:n.5400G>A
XM_005248262.3:c.5301G>A	XP_005248319.2:p.Gln1767=
XM_017009177.1:c.5301G>A	XP_016864666.1:p.Gln1767=
XM_017009178.1:c.4206G>A	XP_016864667.1:p.Gln1402=
XM_017009179.2:c.4206G>A	XP_016864668.1:p.Gln1402=
XM_017009180.1:c.5301G>A	XP_016864669.1:p.Gln1767=
XM_017009181.1:c.5301G>A	XP_016864670.1:p.Gln1767=
XM_017009182.1:c.5301G>A	XP_016864671.1:p.Gln1767=
XM_017009183.1:c.5301G>A	XP_016864672.1:p.Gln1767=
XM_017009184.1:c.5301G>A	XP_016864673.1:p.Gln1767=
XM_017009185.1:c.390G>A	XP_016864674.1:p.Gln130=
XM_017009186.1:c.22-3011G>A	XP_016864675.1:n.22-3011G>A
XM_017009187.1:c.5301G>A	XP_016864676.1:p.Gln1767=
XM_024454388.1:c.4206G>A	XP_024310156.1:p.Gln1402=
XM_024454389.1:c.3795G>A	XP_024310157.1:p.Gln1265=
XR_001742034.1:n.5318G>A
XR_001742035.1:n.5318G>A
NM_001369.3:c.5193G>A MANE Select	NP_001360.1:p.Gln1731=