Canonical Allele Identifier: CA3202691
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 281131
dbSNP Id: rs147688221
gnomAD v2: 5-13781044-G-C
gnomAD v3: 5-13780935-G-C
gnomAD v4: 5-13780935-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780935G>C , CM000667.2:g.13780935G>C GRCh38
NC_000005.9:g.13781044G>C , CM000667.1:g.13781044G>C GRCh37
NC_000005.8:g.13834044G>C NCBI36
NG_013081.1:g.168546C>G
NG_013081.2:g.168546C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8845C>G MANE Select ENSP00000265104.4:p.Gln2949Glu
ENST00000681290.1:c.8800C>G ENSP00000505288.1:p.Gln2934Glu
ENST00000265104.4:c.8845C>G ENSP00000265104.4:p.Gln2949Glu
NM_001369.2:c.8845C>G NP_001360.1:p.Gln2949Glu
XM_005248262.2:c.8800C>G XP_005248319.1:p.Gln2934Glu
XM_011513990.1:c.8845C>G XP_011512292.1:p.Gln2949Glu
XR_925598.1:n.9028-3580C>G
XM_005248262.3:c.8953C>G XP_005248319.2:p.Gln2985Glu
XM_017009177.1:c.8953C>G XP_016864666.1:p.Gln2985Glu
XM_017009178.1:c.7858C>G XP_016864667.1:p.Gln2620Glu
XM_017009179.2:c.7858C>G XP_016864668.1:p.Gln2620Glu
XM_017009180.1:c.8953C>G XP_016864669.1:p.Gln2985Glu
XM_017009181.1:c.8953C>G XP_016864670.1:p.Gln2985Glu
XM_017009182.1:c.8953C>G XP_016864671.1:p.Gln2985Glu
XM_017009183.1:c.8953C>G XP_016864672.1:p.Gln2985Glu
XM_017009184.1:c.8953C>G XP_016864673.1:p.Gln2985Glu
XM_017009185.1:c.4042C>G XP_016864674.1:p.Gln1348Glu
XM_017009186.1:c.3595C>G XP_016864675.1:p.Gln1199Glu
XM_017009188.1:c.2932C>G XP_016864677.1:p.Gln978Glu
XM_024454388.1:c.7858C>G XP_024310156.1:p.Gln2620Glu
XM_024454389.1:c.7447C>G XP_024310157.1:p.Gln2483Glu
XR_001742034.1:n.8946-3580C>G
XR_001742035.1:n.8946-3580C>G
NM_001369.3:c.8845C>G MANE Select NP_001360.1:p.Gln2949Glu