Canonical Allele Identifier: CA359221148
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1762294
ClinVar RCV Id: RCV002427790
dbSNP Id: rs756343680
gnomAD v4: 5-13793563-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13793563T>A , CM000667.2:g.13793563T>A GRCh38
NC_000005.9:g.13793672T>A , CM000667.1:g.13793672T>A GRCh37
NC_000005.8:g.13846672T>A NCBI36
NG_013081.1:g.155918A>T
NG_013081.2:g.155918A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8176A>T MANE Select ENSP00000265104.4:p.Ile2726Leu
ENST00000681290.1:c.8131A>T ENSP00000505288.1:p.Ile2711Leu
ENST00000265104.4:c.8176A>T ENSP00000265104.4:p.Ile2726Leu
NM_001369.2:c.8176A>T NP_001360.1:p.Ile2726Leu
XM_005248262.2:c.8131A>T XP_005248319.1:p.Ile2711Leu
XM_011513990.1:c.8176A>T XP_011512292.1:p.Ile2726Leu
XR_925598.1:n.8383A>T
XM_005248262.3:c.8284A>T XP_005248319.2:p.Ile2762Leu
XM_017009177.1:c.8284A>T XP_016864666.1:p.Ile2762Leu
XM_017009178.1:c.7189A>T XP_016864667.1:p.Ile2397Leu
XM_017009179.2:c.7189A>T XP_016864668.1:p.Ile2397Leu
XM_017009180.1:c.8284A>T XP_016864669.1:p.Ile2762Leu
XM_017009181.1:c.8284A>T XP_016864670.1:p.Ile2762Leu
XM_017009182.1:c.8284A>T XP_016864671.1:p.Ile2762Leu
XM_017009183.1:c.8284A>T XP_016864672.1:p.Ile2762Leu
XM_017009184.1:c.8284A>T XP_016864673.1:p.Ile2762Leu
XM_017009185.1:c.3373A>T XP_016864674.1:p.Ile1125Leu
XM_017009186.1:c.2926A>T XP_016864675.1:p.Ile976Leu
XM_017009188.1:c.2263A>T XP_016864677.1:p.Ile755Leu
XM_024454388.1:c.7189A>T XP_024310156.1:p.Ile2397Leu
XM_024454389.1:c.6778A>T XP_024310157.1:p.Ile2260Leu
XR_001742034.1:n.8301A>T
XR_001742035.1:n.8301A>T
NM_001369.3:c.8176A>T MANE Select NP_001360.1:p.Ile2726Leu