Canonical Allele Identifier: CA3202698
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 454812
dbSNP Id: rs184758570

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780952C>T , CM000667.2:g.13780952C>T GRCh38
NC_000005.9:g.13781061C>T , CM000667.1:g.13781061C>T GRCh37
NC_000005.8:g.13834061C>T NCBI36
NG_013081.1:g.168529G>A
NG_013081.2:g.168529G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.8828G>A MANE Select ENSP00000265104.4:p.Arg2943His
ENST00000681290.1:c.8783G>A ENSP00000505288.1:p.Arg2928His
ENST00000265104.4:c.8828G>A ENSP00000265104.4:p.Arg2943His
NM_001369.2:c.8828G>A NP_001360.1:p.Arg2943His
XM_005248262.2:c.8783G>A XP_005248319.1:p.Arg2928His
XM_011513990.1:c.8828G>A XP_011512292.1:p.Arg2943His
XR_925598.1:n.9028-3597G>A
XM_005248262.3:c.8936G>A XP_005248319.2:p.Arg2979His
XM_017009177.1:c.8936G>A XP_016864666.1:p.Arg2979His
XM_017009178.1:c.7841G>A XP_016864667.1:p.Arg2614His
XM_017009179.2:c.7841G>A XP_016864668.1:p.Arg2614His
XM_017009180.1:c.8936G>A XP_016864669.1:p.Arg2979His
XM_017009181.1:c.8936G>A XP_016864670.1:p.Arg2979His
XM_017009182.1:c.8936G>A XP_016864671.1:p.Arg2979His
XM_017009183.1:c.8936G>A XP_016864672.1:p.Arg2979His
XM_017009184.1:c.8936G>A XP_016864673.1:p.Arg2979His
XM_017009185.1:c.4025G>A XP_016864674.1:p.Arg1342His
XM_017009186.1:c.3578G>A XP_016864675.1:p.Arg1193His
XM_017009188.1:c.2915G>A XP_016864677.1:p.Arg972His
XM_024454388.1:c.7841G>A XP_024310156.1:p.Arg2614His
XM_024454389.1:c.7430G>A XP_024310157.1:p.Arg2477His
XR_001742034.1:n.8946-3597G>A
XR_001742035.1:n.8946-3597G>A
NM_001369.3:c.8828G>A MANE Select NP_001360.1:p.Arg2943His