Canonical Allele Identifier: CA3204665
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 258009
dbSNP Id: rs140630779

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13900398A>G , CM000667.2:g.13900398A>G GRCh38
NC_000005.9:g.13900507A>G , CM000667.1:g.13900507A>G GRCh37
NC_000005.8:g.13953507A>G NCBI36
NG_013081.1:g.49083T>C
NG_013081.2:g.49083T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.2067T>C MANE Select ENSP00000265104.4:p.His689=
ENST00000681290.1:c.2022T>C ENSP00000505288.1:p.His674=
ENST00000265104.4:c.2067T>C ENSP00000265104.4:p.His689=
NM_001369.2:c.2067T>C NP_001360.1:p.His689=
XM_005248262.2:c.2022T>C XP_005248319.1:p.His674=
XM_011513990.1:c.2067T>C XP_011512292.1:p.His689=
XR_925598.1:n.2274T>C
XM_005248262.3:c.2175T>C XP_005248319.2:p.His725=
XM_017009177.1:c.2175T>C XP_016864666.1:p.His725=
XM_017009178.1:c.1080T>C XP_016864667.1:p.His360=
XM_017009179.2:c.1080T>C XP_016864668.1:p.His360=
XM_017009180.1:c.2175T>C XP_016864669.1:p.His725=
XM_017009181.1:c.2175T>C XP_016864670.1:p.His725=
XM_017009182.1:c.2175T>C XP_016864671.1:p.His725=
XM_017009183.1:c.2175T>C XP_016864672.1:p.His725=
XM_017009184.1:c.2175T>C XP_016864673.1:p.His725=
XM_017009187.1:c.2175T>C XP_016864676.1:p.His725=
XM_024454388.1:c.1080T>C XP_024310156.1:p.His360=
XM_024454389.1:c.669T>C XP_024310157.1:p.His223=
XR_001742034.1:n.2192T>C
XR_001742035.1:n.2192T>C
NM_001369.3:c.2067T>C MANE Select NP_001360.1:p.His689=