Canonical Allele Identifier: CA246962
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 198359
dbSNP Id: rs36088710
gnomAD v2: 5-13737582-T-C
gnomAD v3: 5-13737473-T-C
gnomAD v4: 5-13737473-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13737473T>C , CM000667.2:g.13737473T>C GRCh38
NC_000005.9:g.13737582T>C , CM000667.1:g.13737582T>C GRCh37
NC_000005.8:g.13790582T>C NCBI36
NG_013081.1:g.212008A>G
NG_013081.2:g.212008A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11234A>G MANE Select ENSP00000265104.4:p.His3745Arg
ENST00000681290.1:c.11189A>G ENSP00000505288.1:p.His3730Arg
ENST00000265104.4:c.11234A>G ENSP00000265104.4:p.His3745Arg
NM_001369.2:c.11234A>G NP_001360.1:p.His3745Arg
XM_005248262.2:c.11189A>G XP_005248319.1:p.His3730Arg
XM_005248262.3:c.11342A>G XP_005248319.2:p.His3781Arg
XM_017009177.1:c.11342A>G XP_016864666.1:p.His3781Arg
XM_017009178.1:c.10247A>G XP_016864667.1:p.His3416Arg
XM_017009179.2:c.10247A>G XP_016864668.1:p.His3416Arg
XM_017009180.1:c.11342A>G XP_016864669.1:p.His3781Arg
XM_017009181.1:c.11342A>G XP_016864670.1:p.His3781Arg
XM_017009182.1:c.11320-1541A>G XP_016864671.1:n.11320-1541A>G
XM_017009185.1:c.6431A>G XP_016864674.1:p.His2144Arg
XM_017009186.1:c.5984A>G XP_016864675.1:p.His1995Arg
XM_017009188.1:c.5321A>G XP_016864677.1:p.His1774Arg
XM_024454388.1:c.10247A>G XP_024310156.1:p.His3416Arg
XM_024454389.1:c.9836A>G XP_024310157.1:p.His3279Arg
NM_001369.3:c.11234A>G MANE Select NP_001360.1:p.His3745Arg