Canonical Allele Identifier: CA3203585
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 454788
dbSNP Id: rs548521732
gnomAD v2: 5-13839639-T-C
gnomAD v3: 5-13839530-T-C
gnomAD v4: 5-13839530-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13839530T>C , CM000667.2:g.13839530T>C GRCh38
NC_000005.9:g.13839639T>C , CM000667.1:g.13839639T>C GRCh37
NC_000005.8:g.13892639T>C NCBI36
NG_013081.1:g.109951A>G
NG_013081.2:g.109951A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5710-2A>G MANE Select ENSP00000265104.4:n.5710-2A>G
ENST00000681290.1:c.5665-2A>G ENSP00000505288.1:n.5665-2A>G
ENST00000265104.4:c.5710-2A>G ENSP00000265104.4:n.5710-2A>G
NM_001369.2:c.5710-2A>G NP_001360.1:n.5710-2A>G
XM_005248262.2:c.5665-2A>G XP_005248319.1:n.5665-2A>G
XM_011513990.1:c.5710-2A>G XP_011512292.1:n.5710-2A>G
XR_925598.1:n.5917-2A>G
XM_005248262.3:c.5818-2A>G XP_005248319.2:n.5818-2A>G
XM_017009177.1:c.5818-2A>G XP_016864666.1:n.5818-2A>G
XM_017009178.1:c.4723-2A>G XP_016864667.1:n.4723-2A>G
XM_017009179.2:c.4723-2A>G XP_016864668.1:n.4723-2A>G
XM_017009180.1:c.5818-2A>G XP_016864669.1:n.5818-2A>G
XM_017009181.1:c.5818-2A>G XP_016864670.1:n.5818-2A>G
XM_017009182.1:c.5818-2A>G XP_016864671.1:n.5818-2A>G
XM_017009183.1:c.5818-2A>G XP_016864672.1:n.5818-2A>G
XM_017009184.1:c.5818-2A>G XP_016864673.1:n.5818-2A>G
XM_017009185.1:c.907-2A>G XP_016864674.1:n.907-2A>G
XM_017009186.1:c.460-2A>G XP_016864675.1:n.460-2A>G
XM_017009187.1:c.5818-2A>G XP_016864676.1:n.5818-2A>G
XM_024454388.1:c.4723-2A>G XP_024310156.1:n.4723-2A>G
XM_024454389.1:c.4312-2A>G XP_024310157.1:n.4312-2A>G
XR_001742034.1:n.5835-2A>G
XR_001742035.1:n.5835-2A>G
NM_001369.3:c.5710-2A>G MANE Select NP_001360.1:n.5710-2A>G