Canonical Allele Identifier: CA359205019
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770910G>T , CM000667.2:g.13770910G>T GRCh38
NC_000005.9:g.13771019G>T , CM000667.1:g.13771019G>T GRCh37
NC_000005.8:g.13824019G>T NCBI36
NG_013081.1:g.178571C>A
NG_013081.2:g.178571C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9444C>A MANE Select ENSP00000265104.4:p.Cys3148Ter
ENST00000681290.1:c.9399C>A ENSP00000505288.1:p.Cys3133Ter
ENST00000265104.4:c.9444C>A ENSP00000265104.4:p.Cys3148Ter
ENST00000504001.3:n.156C>A
NM_001369.2:c.9444C>A NP_001360.1:p.Cys3148Ter
XM_005248262.2:c.9399C>A XP_005248319.1:p.Cys3133Ter
XM_005248262.3:c.9552C>A XP_005248319.2:p.Cys3184Ter
XM_017009177.1:c.9552C>A XP_016864666.1:p.Cys3184Ter
XM_017009178.1:c.8457C>A XP_016864667.1:p.Cys2819Ter
XM_017009179.2:c.8457C>A XP_016864668.1:p.Cys2819Ter
XM_017009180.1:c.9552C>A XP_016864669.1:p.Cys3184Ter
XM_017009181.1:c.9552C>A XP_016864670.1:p.Cys3184Ter
XM_017009182.1:c.9552C>A XP_016864671.1:p.Cys3184Ter
XM_017009183.1:c.9552C>A XP_016864672.1:p.Cys3184Ter
XM_017009185.1:c.4641C>A XP_016864674.1:p.Cys1547Ter
XM_017009186.1:c.4194C>A XP_016864675.1:p.Cys1398Ter
XM_017009188.1:c.3531C>A XP_016864677.1:p.Cys1177Ter
XM_024454388.1:c.8457C>A XP_024310156.1:p.Cys2819Ter
XM_024454389.1:c.8046C>A XP_024310157.1:p.Cys2682Ter
NM_001369.3:c.9444C>A MANE Select NP_001360.1:p.Cys3148Ter