Canonical Allele Identifier: CA359212950
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2043028
ClinVar RCV Id: RCV002908381
dbSNP Id: rs1263317922
gnomAD v2: 5-13781054-A-C
gnomAD v3: 5-13780945-A-C
gnomAD v4: 5-13780945-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780945A>C , CM000667.2:g.13780945A>C GRCh38
NC_000005.9:g.13781054A>C , CM000667.1:g.13781054A>C GRCh37
NC_000005.8:g.13834054A>C NCBI36
NG_013081.1:g.168536T>G
NG_013081.2:g.168536T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8835T>G MANE Select ENSP00000265104.4:p.Ile2945Met
ENST00000681290.1:c.8790T>G ENSP00000505288.1:p.Ile2930Met
ENST00000265104.4:c.8835T>G ENSP00000265104.4:p.Ile2945Met
NM_001369.2:c.8835T>G NP_001360.1:p.Ile2945Met
XM_005248262.2:c.8790T>G XP_005248319.1:p.Ile2930Met
XM_011513990.1:c.8835T>G XP_011512292.1:p.Ile2945Met
XR_925598.1:n.9028-3590T>G
XM_005248262.3:c.8943T>G XP_005248319.2:p.Ile2981Met
XM_017009177.1:c.8943T>G XP_016864666.1:p.Ile2981Met
XM_017009178.1:c.7848T>G XP_016864667.1:p.Ile2616Met
XM_017009179.2:c.7848T>G XP_016864668.1:p.Ile2616Met
XM_017009180.1:c.8943T>G XP_016864669.1:p.Ile2981Met
XM_017009181.1:c.8943T>G XP_016864670.1:p.Ile2981Met
XM_017009182.1:c.8943T>G XP_016864671.1:p.Ile2981Met
XM_017009183.1:c.8943T>G XP_016864672.1:p.Ile2981Met
XM_017009184.1:c.8943T>G XP_016864673.1:p.Ile2981Met
XM_017009185.1:c.4032T>G XP_016864674.1:p.Ile1344Met
XM_017009186.1:c.3585T>G XP_016864675.1:p.Ile1195Met
XM_017009188.1:c.2922T>G XP_016864677.1:p.Ile974Met
XM_024454388.1:c.7848T>G XP_024310156.1:p.Ile2616Met
XM_024454389.1:c.7437T>G XP_024310157.1:p.Ile2479Met
XR_001742034.1:n.8946-3590T>G
XR_001742035.1:n.8946-3590T>G
NM_001369.3:c.8835T>G MANE Select NP_001360.1:p.Ile2945Met