Canonical Allele Identifier: CA3203678
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351091
dbSNP Id: rs758513686
gnomAD v2: 5-13841860-C-T
gnomAD v3: 5-13841751-C-T
gnomAD v4: 5-13841751-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841751C>T , CM000667.2:g.13841751C>T GRCh38
NC_000005.9:g.13841860C>T , CM000667.1:g.13841860C>T GRCh37
NC_000005.8:g.13894860C>T NCBI36
NG_013081.1:g.107730G>A
NG_013081.2:g.107730G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5425G>A MANE Select ENSP00000265104.4:p.Ala1809Thr
ENST00000681290.1:c.5380G>A ENSP00000505288.1:p.Ala1794Thr
ENST00000265104.4:c.5425G>A ENSP00000265104.4:p.Ala1809Thr
NM_001369.2:c.5425G>A NP_001360.1:p.Ala1809Thr
XM_005248262.2:c.5380G>A XP_005248319.1:p.Ala1794Thr
XM_011513990.1:c.5425G>A XP_011512292.1:p.Ala1809Thr
XR_925598.1:n.5632G>A
XM_005248262.3:c.5533G>A XP_005248319.2:p.Ala1845Thr
XM_017009177.1:c.5533G>A XP_016864666.1:p.Ala1845Thr
XM_017009178.1:c.4438G>A XP_016864667.1:p.Ala1480Thr
XM_017009179.2:c.4438G>A XP_016864668.1:p.Ala1480Thr
XM_017009180.1:c.5533G>A XP_016864669.1:p.Ala1845Thr
XM_017009181.1:c.5533G>A XP_016864670.1:p.Ala1845Thr
XM_017009182.1:c.5533G>A XP_016864671.1:p.Ala1845Thr
XM_017009183.1:c.5533G>A XP_016864672.1:p.Ala1845Thr
XM_017009184.1:c.5533G>A XP_016864673.1:p.Ala1845Thr
XM_017009185.1:c.622G>A XP_016864674.1:p.Ala208Thr
XM_017009186.1:c.175G>A XP_016864675.1:p.Ala59Thr
XM_017009187.1:c.5533G>A XP_016864676.1:p.Ala1845Thr
XM_024454388.1:c.4438G>A XP_024310156.1:p.Ala1480Thr
XM_024454389.1:c.4027G>A XP_024310157.1:p.Ala1343Thr
XR_001742034.1:n.5550G>A
XR_001742035.1:n.5550G>A
NM_001369.3:c.5425G>A MANE Select NP_001360.1:p.Ala1809Thr