Canonical Allele Identifier: CA3203868
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 525557
dbSNP Id: rs369137751
gnomAD v2: 5-13859704-G-T
gnomAD v3: 5-13859595-G-T
gnomAD v4: 5-13859595-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13859595G>T , CM000667.2:g.13859595G>T GRCh38
NC_000005.9:g.13859704G>T , CM000667.1:g.13859704G>T GRCh37
NC_000005.8:g.13912704G>T NCBI36
NG_013081.1:g.89886C>A
NG_013081.2:g.89886C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.4807C>A MANE Select ENSP00000265104.4:p.Pro1603Thr
ENST00000681290.1:c.4762C>A ENSP00000505288.1:p.Pro1588Thr
ENST00000265104.4:c.4807C>A ENSP00000265104.4:p.Pro1603Thr
NM_001369.2:c.4807C>A NP_001360.1:p.Pro1603Thr
XM_005248262.2:c.4762C>A XP_005248319.1:p.Pro1588Thr
XM_011513990.1:c.4807C>A XP_011512292.1:p.Pro1603Thr
XR_925598.1:n.5014C>A
XM_005248262.3:c.4915C>A XP_005248319.2:p.Pro1639Thr
XM_017009177.1:c.4915C>A XP_016864666.1:p.Pro1639Thr
XM_017009178.1:c.3820C>A XP_016864667.1:p.Pro1274Thr
XM_017009179.2:c.3820C>A XP_016864668.1:p.Pro1274Thr
XM_017009180.1:c.4915C>A XP_016864669.1:p.Pro1639Thr
XM_017009181.1:c.4915C>A XP_016864670.1:p.Pro1639Thr
XM_017009182.1:c.4915C>A XP_016864671.1:p.Pro1639Thr
XM_017009183.1:c.4915C>A XP_016864672.1:p.Pro1639Thr
XM_017009184.1:c.4915C>A XP_016864673.1:p.Pro1639Thr
XM_017009185.1:c.4C>A XP_016864674.1:p.Pro2Thr
XM_017009187.1:c.4915C>A XP_016864676.1:p.Pro1639Thr
XM_024454388.1:c.3820C>A XP_024310156.1:p.Pro1274Thr
XM_024454389.1:c.3409C>A XP_024310157.1:p.Pro1137Thr
XR_001742034.1:n.4932C>A
XR_001742035.1:n.4932C>A
NM_001369.3:c.4807C>A MANE Select NP_001360.1:p.Pro1603Thr