Canonical Allele Identifier: CA3204015
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351129
dbSNP Id: rs377432140
gnomAD v2: 5-13865794-G-C
gnomAD v3: 5-13865685-G-C
gnomAD v4: 5-13865685-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13865685G>C , CM000667.2:g.13865685G>C GRCh38
NC_000005.9:g.13865794G>C , CM000667.1:g.13865794G>C GRCh37
NC_000005.8:g.13918794G>C NCBI36
NG_013081.1:g.83796C>G
NG_013081.2:g.83796C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.4338C>G MANE Select ENSP00000265104.4:p.Leu1446=
ENST00000681290.1:c.4293C>G ENSP00000505288.1:p.Leu1431=
ENST00000265104.4:c.4338C>G ENSP00000265104.4:p.Leu1446=
NM_001369.2:c.4338C>G NP_001360.1:p.Leu1446=
XM_005248262.2:c.4293C>G XP_005248319.1:p.Leu1431=
XM_011513990.1:c.4338C>G XP_011512292.1:p.Leu1446=
XR_925598.1:n.4545C>G
XM_005248262.3:c.4446C>G XP_005248319.2:p.Leu1482=
XM_017009177.1:c.4446C>G XP_016864666.1:p.Leu1482=
XM_017009178.1:c.3351C>G XP_016864667.1:p.Leu1117=
XM_017009179.2:c.3351C>G XP_016864668.1:p.Leu1117=
XM_017009180.1:c.4446C>G XP_016864669.1:p.Leu1482=
XM_017009181.1:c.4446C>G XP_016864670.1:p.Leu1482=
XM_017009182.1:c.4446C>G XP_016864671.1:p.Leu1482=
XM_017009183.1:c.4446C>G XP_016864672.1:p.Leu1482=
XM_017009184.1:c.4446C>G XP_016864673.1:p.Leu1482=
XM_017009187.1:c.4446C>G XP_016864676.1:p.Leu1482=
XM_024454388.1:c.3351C>G XP_024310156.1:p.Leu1117=
XM_024454389.1:c.2940C>G XP_024310157.1:p.Leu980=
XR_001742034.1:n.4463C>G
XR_001742035.1:n.4463C>G
NM_001369.3:c.4338C>G MANE Select NP_001360.1:p.Leu1446=